Cancer Family
Genitourinary System Neoplasm
CI-CAN-00000018Explore in graph →
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- C156482
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Cancer Family
CI-CAN-00000018Explore in graph →
Variants & evidence
684 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| TP53 ALTERATION2 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID3014In a study of invasive ovarian carcinoma patients who had undergone surgery, the p53 alteration variant was defined as p53 mutation or p53 overexpression by immunostain (>10% positive). Patients with … (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| Carboplatin + CisplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | B | Supports Resistance | 4 | accepted | EID2771In a group of patients with invasive ovarian carcinoma who had undergone surgery, a subset of 74 patients treated with platinum based chemotherapy were assessed for p53 alteration (p53 mutation or p5… (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| TP53 CONSERVED DOMAIN MUT1 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID2993Patients with conserved domain p53 mutation (n=61) were compared with those with wild type or non-conserved domain p53 mutation (n=117) in a cohort of 178 invasive ovarian carcinoma patients who had u… (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| TP53 Mutation2 | ||||||||
| Doxorubicin + EprenetapoptCombination | Malignant Ovarian Neoplasm | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID12011This study examined the combined effects of APR-246 and doxorubicin in doxorubicin-resistant ovarian cancer cell lines. It revealed a decrease in IC50 value for doxorubicin from 0.95±0.11 μM to 0.12±0… (full text at CIViC) PMID 26086967 · Mohell et al., 2015 · Open in CIViC | civic |
| Cisplatin + EprenetapoptCombination | Malignant Ovarian Neoplasm | Predictive | D | Supports Sensitivity Response | 4 | submitted | EID12010The combination effect of APR-246 and cisplatin was studied in cisplatin-resistant ovarian cancer cell lines. A decrease in IC50 value from 52±11 to 3.2±0.8 μM (p <0.05) for cisplatin was recorded in… (full text at CIViC) PMID 26086967 · Mohell et al., 2015 · Open in CIViC | civic |
| Deletion + TP53 Mutation1 | ||||||||
| (prognostic) | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID1283540 diffuse anaplasia in Wilms tumours (DAWT) samples were tested using copy number (n = 32) and gene expression (n = 36) arrays. 22 had TP53 mutations and 20 of these also had 17p loss. An increased r… (full text at CIViC) PMID 25313908 · Maschietto et al., 2014 · Open in CIViC | civic |
| TP53 Overexpression3 | ||||||||
| (prognostic) | Malignant Ovarian Neoplasm | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID2697p53 overexpression (>10% positive stained nuclei) was found in 110 cases from a 178 patient cohort with invasive ovarian carcinoma who had undergone surgery. Overexpression of p53 was correlated with … (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| 〃 | Kidney Wilms TumorALIAS | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID894544 archival FFPE samples from confirmed cases of Wilms tumor with mean age 3 years 2 months, and taken from the most histologically aggressive parts of each tumor, were stained with p53 monoclonal ant… (full text at CIViC) PMID 21525573 · Jadali et al., 2011 · Open in CIViC | civic |
| Carboplatin + CisplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | ||||||
| TP53 P72R1 | ||||||||
| (prognostic) | Malignant Cervical Neoplasm | Prognostic | B | Does Not Support Poor Outcome | 2 | accepted | EID1304In a relatively small meta-analysis of 119 women with cervical cancer and 127 controls, associations with homozygosity for arginine, and heterozygosity at this locus were both associated with odds rat… (full text at CIViC) PMID 11535556 · Klug et al., 2001 · Open in CIViC | civic |
| TP53 R175H1 | ||||||||
| (oncogenic) | Malignant Endometrial NeoplasmCURATED_BROADER | Oncogenic | D | Supports Oncogenicity | 2 | submitted | EID7429A preclinical study was testing the neomorphic effects of TP53-R175H mutation. Multiple human endometrial cancer KLE cell lines were categorized into different groups: Untransfected cells, Vector (ve… (full text at CIViC) PMID 19917135 · Dong et al., 2009 · Open in CIViC | civic |
| TP53 R213*1 | ||||||||
| (predisposing) | Salivary Gland Mucinous Adenocarcinoma | Predisposing | E | Supports Pathogenic | 3 | submitted | EID7321As seen in Figure 1, the R213* mutation is predominantly found in colorectal and breast cancers. The variant was described as being a frequent p53 nonsense mutation in melanoma, kidney chromophobe, es… (full text at CIViC) PMID 28249646 · Panaccione et al., 2017 · Open in CIViC | civic |
| TP53 R248Q1 | ||||||||
| Doxorubicin + Etoposide + PaclitaxelSequential | Malignant Ovarian Neoplasm | Predictive | D | Supports Resistance | 4 | submitted | EID7175Most common oncomorphic TP53 mutations are at positions R273, R248, R175, and Y220. Mutant R248Q confers chemoresistance to doxorubicin and paclitaxel. In vitro studies, cells with oncomorphic p53 de… (full text at CIViC) PMID 24065105 · Brachova et al., 2013 · Open in CIViC | civic |
| TP53 R273L1 | ||||||||
| Carboplatin + CisplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | C | Supports Resistance | — | accepted | EID2286Ovarian cancer patients with TP53 missense mutations were refractory to platinum-based chemotherapy (66% vs. 34% in wildtype, P=0.008) and had a shorter time to disease progression (n=54, P=0.037). A … (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| TP53 Y234C1 | ||||||||
| Carboplatin + CisplatinSubstitutes | Malignant Ovarian Neoplasm | Predictive | C | Supports Resistance | — | accepted | EID2745Ovarian cancer patients with TP53 missense mutations were refractory to platinum-based chemotherapy (66% vs. 34% in wildtype, P=0.008) and had a shorter time to disease progression (n=54, P=0.037). A … (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC | civic |
| NTRK1 Fusion1 | ||||||||
| Entrectinib | Malignant Ovarian Neoplasm | Predictive | C | Does Not Support Resistance | 2 | submitted | EID1174356-year-old women was diagnosed with a stage IV ovarian cancer. Debulking surgery, and chemotherapy was given for 10 months. However, disease recurred and at this time NGS was performed which detected… (full text at CIViC) PMID 35251641 · Endo et al., 2022 · Open in CIViC | civic |
| TSC1 Frameshift Truncation1 | ||||||||
| Everolimus | Invasive Bladder Urothelial CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 3 | accepted | EID320A patient with metastatic bladder cancer that responded well to the mTOR inhibitor everolimus was shown to harbor a TSC1 frameshift truncation mutation (c.1907_1908del, p.Glu636fs) and a nonsense NF2 … (full text at CIViC) PMID 22923433 · Iyer et al., 2012 · Open in CIViC | civic |
| TSC1 Loss-of-function3 | ||||||||
| Everolimus | Bladder Carcinoma | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID155Tumors (n=14) expressing TSC1 mutations (5/14) show notably more sensitivity to everolimus than their wild-type counterparts (9/14). A dramatic response was observed in a patient with combination of L… (full text at CIViC) PMID 22923433 · Iyer et al., 2012 · Open in CIViC | civic |
| MTOR Inhibitor | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID5837In a retrospective study of 79 RCC patients treated with diverse rapalogs (mTOR inhibitors) inactivating TSC1 and TSC2-mutations and activating MTOR-mutations were significantly more common in respons… (full text at CIViC) PMID 26831717 · Kwiatkowski et al., 2016 · Open in CIViC | civic |
| 〃 | Renal Cell CarcinomaCURATED_BROADER | Predictive | ||||||
| TSC2 Loss-of-function1 | ||||||||
| MTOR Inhibitor | Renal Cell CarcinomaCURATED_BROADER | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID5838In a retrospective study of 79 RCC patients treated with diverse rapalogs (mTOR inhibitors) inactivating TSC1 and TSC2-mutations and activating MTOR-mutations were significantly more common in respons… (full text at CIViC) PMID 26831717 · Kwiatkowski et al., 2016 · Open in CIViC | civic |
| TSPYL1 P62S2 | ||||||||
| Abiraterone | Malignant Prostate Neoplasm | Predictive | D | Does Not Support Sensitivity Response | 2 | submitted | EID8947Prostate cancer cell lines over-expressing TSPYL1 P62S had similar levels of cell proliferation as control cells normally expressing TSPYL1 wildtype when treated with abiraterone. Authors note that TS… (full text at CIViC) PMID 29027195 · Qin et al., 2018 · Open in CIViC | civic |
| Abiraterone + PrednisoneCombination | Malignant Prostate Neoplasm | Predictive | B | Does Not Support Sensitivity Response | 4 | submitted | EID5861In a prospective clinical trial, 87 metastatic castration resistant prostate cancer (mCRPC) patients treated with abiraterone acetate/prednisone (AA/P) showed that TSPYL1 R62S (NC_000006.11:g.11660081… (full text at CIViC) PMID 29027195 · Qin et al., 2018 · Open in CIViC | civic |
| TYMS Underexpression1 | ||||||||
| Pemetrexed | Malignant Prostate Neoplasm | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID908Case report of a patient with metastatic prostate cancer and underexpression of TYMS who showed a nonspecified response to pemetrexed for at least 4 months. PMID 24782778 · Russell et al., 2014 · Open in CIViC | civic |
| ALK Fusion1 | ||||||||
| Crizotinib | Vaginal SarcomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID6042Patient was 34-year-old woman with vaginal sarcoma, which was excised with positive surgical margins. Fluorescence in situ hybridization testing of her tumor revealed anaplastic lymphoma kinase gene … (full text at CIViC) PMID 26942346 · Forde et al., 2016 · Open in CIViC | civic |
| TFE3 Fusion1 | ||||||||
| (prognostic) | Renal Cell CarcinomaCURATED_BROADER | Prognostic | C | Supports Better Outcome | 1 | submitted | EID12392A case of metastatic renal cell carcinoma (RCC) is reported with a novel translocation t(X;9)(p11.23;p13.3) and RNA-seq identification of a putative corresponding fusion: VCP::TFE3. TFE3 fusion positi… (full text at CIViC) PMID 36695651 · Kuentz et al., 2023 · Open in CIViC | civic |
| VEGFA Overexpression1 | ||||||||
| Bevacizumab + ErlotinibCombination | Malignant Ovarian Neoplasm | Predictive | B | Supports Resistance | 2 | submitted | EID7237This phase II trial evaluated the efficacy of bevacizumab+erlotinib in 40 platinum-resistant ovarian cancer patients. No evidence was found associating VEGFR-1 expression and any clinical parameters.… (full text at CIViC) PMID 21041183 · Chambers et al., 2010 · Open in CIViC | civic |
| VHL A149fs (c.444dup)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6156This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL A56_P59del (c.166_178del)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Predisposition | 3 | accepted | EID6062Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC | civic |
| VHL C162R (c.484T>C)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6161This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL C162Y (c.485G>A)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6923Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL D121_A122del (c.361_366del)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID6907Tumors from 98 patients with sporadic clear cell renal carcinoma (ccRC) were analyzed for VHL mutations and loss of heterozygosity (LOH). Somatic VHL variants were observed in 56 patients, and VHL LOH… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL D126G (c.377A>G)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6908Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL E160* (c.478G>T)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6012Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC | civic |
| VHL E55fs (c.162delG)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6127This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL E55FS (c.163_164delGA)1 | ||||||||
| (oncogenic) | Renal Cell CarcinomaCURATED_BROADER | Oncogenic | C | Supports Oncogenicity | 1 | accepted | EID1828In a 54 year old male patient with sporadic renal cell carcinoma, VHL c.163_164delGA causing a p.Glu55 Stop at 130 frameshift mutation was observed. Loss of heterozygosity analysis was non-informative… (full text at CIViC) PMID 10408776 · Gallou et al., 1999 · Open in CIViC | civic |
| VHL E70fs (c.209_210delAG)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6133This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL E94_P97del (c.281_291del)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6142This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL F137fs (c.408insT)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6914Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL G104fs*158 (c.311delC)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6901Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL G104fs (c.309delT)3 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6028In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC | civic |
| 〃 | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6029In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC) PMID 7591282 · Bailly et al., 1995 · Open in CIViC | civic |
| 〃 | Kidney CarcinomaALIAS | |||||||
| VHL G104fs (c.310delG)1 | ||||||||
| (predisposing) | Renal Cell CarcinomaCURATED_BROADER | Predisposing | C | Supports Predisposition | 3 | submitted | EID6063Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC) PMID 7977367 · Whaley et al., 1994 · Open in CIViC | civic |
| VHL G114C (c.340G>T)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6145This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL G114S (c.340G>A)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | rejected | EID6902Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL G127fs (c.381delG)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6909Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
| VHL G144fs (c.429_430insGGAC)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6153This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL G144fs (c.430_433delGGAC)1 | ||||||||
| (oncogenic) | Clear Cell Renal Cell Carcinoma | Oncogenic | C | Supports Oncogenicity | 1 | submitted | EID6154This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC) PMID 11505222 · Gallou et al., 2001 · Open in CIViC | civic |
| VHL G144fs (c.431del)1 | ||||||||
| (predisposing) | Kidney CarcinomaALIAS | Predisposing | C | Supports Uncertain Significance | 3 | submitted | EID6917Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC | civic |
Data updated 21 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.
| B |
| Supports Resistance |
| 3 |
| accepted |
EID3013In a study involving patients with invasive ovarian carcinoma who had undergone surgery, a subset of 73 patients were classified via response to platinum-based chemotherapy as sensitive or resistant/r… (full text at CIViC) PMID 11595686 · Reles et al., 2001 · Open in CIViC |
| civic |
| C |
| Supports Sensitivity Response |
| 2 |
| submitted |
EID6053In 5 patients with renal cell carcinoma who achieved durable disease control with mTOR inhibitors (median duration, 28 months), Custom target capture and ultradeep sequencing was used to identify alt… (full text at CIViC) PMID 24622468 · Voss et al., 2014 · Open in CIViC |
| civic |
| Predisposing |
| C |
| Supports Uncertain Significance |
| 3 |
| submitted |
EID6900Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC) PMID 7915601 · Gnarra et al., 1994 · Open in CIViC |
| civic |