Hematologic Malignancy
Lymphoid Neoplasm
CI-CAN-00009335Explore in graph →
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Hematologic Malignancy
CI-CAN-00009335Explore in graph →
Variants & evidence
638 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 |
|---|---|---|---|---|---|---|---|---|
| CRLF2 Fusion3 | ||||||||
| (diagnostic) | Adult B Acute Lymphoblastic LeukemiaALIAS | Diagnostic | B | Supports Positive | 4 | submitted | EID7213CRLF2 overexpression was performed by Q-PCR, IHC, and gene-expression profiling of 254 adult B-ALL samples. CRLF2 overexpression was identified in 15/120 (12.5%) or adult B-ALL cases that lacked chara… (full text at CIViC) PMID 20018760 · Yoda et al., 2010 · Open in CIViC | civic |
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | submitted | EID6231CRLF2 overexpression due to P2RY8-CRLF2 fusion or IGH translocation was found in 14% of high risk pediatric B-ALL cases (in the cohort of 209 high-risk patients). 62% of the cases had IGH translocatio… (full text at CIViC) PMID 20139093 · Harvey et al., 2010 · Open in CIViC | civic |
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 1 | accepted | EID11622In this 2014 study by Roberts et al., a genomic analysis of 1725 patients with precursor B-cell acute lymphoblastic leukemia (B-ALL) was conducted to define the genetic landscape of the Philadelphia c… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| P2RY8 mutation2 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11973This study performed exome sequencing on 55 DLBCL tumor samples and identified several significantly mutated genes including. PMID 22343534 · Lohr et al., 2012 · Open in CIViC | civic |
| 〃 | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11834Mutations in this gene are common in BL according to several studies PMID 25274307 · Muppidi et al., 2014 · Open in CIViC | civic |
| ABL2 Fusion2 | ||||||||
| (oncogenic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID9721In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Oncogenic | C | Supports Oncogenicity | 2 | submitted | EID12872In a study using whole genome, exome and transcriptome sequencing of 2,754 childhood ALL patients, one patient with Ph-like B-ALL had PAG1::ABL2 reported. Patient ID was SJBALL020980. RNAseq, WES, WGS… (full text at CIViC) PMID 36050548 · Brady et al., 2022 · Open in CIViC | civic |
| AUTS2 Fusion1 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 4 | accepted | EID12838The PAX5::AUTS2 represents a rare primary oncogenic driver in B-lymphoblastic Leukemia/lymphoma (B-ALL). An international cohort of 50 patients—including 16 previously reported cases—was assembled, w… (full text at CIViC) PMID 39702796 · Caye-Eude et al., 2025 · Open in CIViC | civic |
| JAK2 Fusion6 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | B | Supports Positive | 3 | accepted | EID7699In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7700In this study which included 1389 cases of high-risk pediatric B-ALL, 284 were identified by TaqMan Low Density Array to have a Ph-like gene expression signature. RT-PCR or RNAseq performed on CRLF2 n… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports | ||||
| PAX5 P80R4 | ||||||||
| (diagnostic) | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Diagnostic | B | Supports Positive | 4 | accepted | EID11519RNA-seq transcriptome analysis in a discovery cohort of 170 B-cell precursor acute lymphoblastic leukemia (BCP-ALL) cases negative for the common classifying cytogenetic aberrations identified severa… (full text at CIViC) PMID 30510083 · Passet et al., 2019 · Open in CIViC | civic |
| 〃 | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Diagnostic | B | Supports Positive | 3 | accepted | EID7290In a large-scale international study RNA sequencing was performed to delineate the transcriptome landscape of 1,223 B-cell ALL cases. Twenty two cases were found to have P80R misense mutation in the D… (full text at CIViC) PMID 30487223 · Li et al., 2018 · Open in CIViC | civic |
| 〃 | B Acute Lymphoblastic Leukemia with PAX5 P80R Mutation | |||||||
| PCBP1 mutation1 | ||||||||
| (oncogenic) | Burkitt Lymphoma | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11833Described in several BL studies after this one PMID 26173642 · Wagener et al., 2015 · Open in CIViC | civic |
| JAK2 Fusion1 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7704The PCM1-JAK2 fusion is typically associated with 'myeloid/lymphoid neoplasms with eosinophilia and gene rearrangements', which is a specific disease entity according to WHO classification. However, i… (full text at CIViC) PMID 28408464 · Reshmi et al., 2017 · Open in CIViC | civic |
| PIM1 L2V1 | ||||||||
| Ibrutinib | Diffuse Large B-Cell Lymphoma Activated B-Cell Type | Predictive | D | Supports Resistance | 3 | accepted | EID9945Foundation panel results of baseline tumour samples from 48 patients with diffuse large B cell lymphoma identified PIM1 mutations in 6 patient samples, 5 of which were the DLBCL-ABC subtype. Four out … (full text at CIViC) PMID 27904766 · Kuo et al., 2016 · Open in CIViC | civic |
| PIM1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11974This is one of the first of many genes identified as targets of aberrant somatic hypermutation in DLBCL PMID 11460166 · Pasqualucci et al., 2001 · Open in CIViC | civic |
| PIM1 P81S1 | ||||||||
| Ibrutinib | Diffuse Large B-Cell Lymphoma Activated B-Cell Type | Predictive | D | Supports Resistance | 3 | accepted | EID9946Foundation panel results of baseline tumour samples from 48 patients with diffuse large B cell lymphoma identified PIM1 mutations in 6 patient samples, 5 of which were the DLBCL-ABC subtype. Four out … (full text at CIViC) PMID 27904766 · Kuo et al., 2016 · Open in CIViC | civic |
| PIM1 S97N1 | ||||||||
| Ibrutinib | Diffuse Large B-Cell Lymphoma Activated B-Cell Type | Predictive | D | Supports Resistance | 3 | accepted | EID9947Foundation panel results of baseline tumour samples from 48 patients with diffuse large B cell lymphoma identified PIM1 mutations in 6 patient samples, 5 of which were the DLBCL-ABC subtype. Four out … (full text at CIViC) PMID 27904766 · Kuo et al., 2016 · Open in CIViC | civic |
| PIM2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11975This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| PLCG1 S345F1 | ||||||||
| (oncogenic) | Adult T-Cell Leukemia/Lymphoma | Oncogenic | D | Supports Oncogenicity | 3 | submitted | EID11795The PLCG1 S345F mutation has been reported as a hotspot mutation in adult T-cell Leukemia/Lymphoma (ATL). This study performed in vitro characterization of the mutation by identifying an ATL cell line… (full text at CIViC) PMID 36442790 · Prawiro et al., 2023 · Open in CIViC | civic |
| POU2AF1 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 4 | submitted | EID11976Through targeted sequencing of 22 genes and comparing matched follicular and diffuse large B-cell lymphoma transformation pairs, mutations in this gene were identified as more common in the matched DL… (full text at CIViC) PMID 30802265 · González-Rincón et al., 2019 · Open in CIViC | civic |
| POU2F2 Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11977The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations. PMID 29713087 · Chapuy et al., 2018 · Open in CIViC | civic |
| JAK2 Fusion2 | ||||||||
| (diagnostic) | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID7673In the study involving 1725 B-ALL patients, 264 were identified by microarray-based algorithm to have a Ph-like expression signature. Next generation sequencing (RNAseq, WGS, and/or WES) performed on … (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID8099In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease.The PPFIBP1-JAK2 fusion is rare; In this study inv… (full text at CIViC) PMID 27870571 · Roberts et al., 2017 · Open in CIViC | civic |
| PRDM1 MUTATION2 | ||||||||
| (prognostic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1638Biopsies from 520 DLBCL patients treated with R-CHOP were evaluated for PRDM1 mutations or protein (BLIMP-1) expression. Patients with a homozygous deletion of PRDM1 (7%, N=19) had a significantly sho… (full text at CIViC) PMID 27568520 · Xia et al., 2017 · Open in CIViC | civic |
| 〃 | Diffuse Large B-Cell LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1717In 177 patients with activated B-cell diffuse large B-cell lymphoma (ABC-DLBCL), PRDM1 mutations (N=46) were associated with worse overall (P=0.016) and progression-free (P=0.023) survival compared to… (full text at CIViC) PMID 27568520 · Xia et al., 2017 · Open in CIViC | civic |
| PRKCB D427N1 | ||||||||
| (diagnostic) | Adult T-Cell Leukemia/Lymphoma | Diagnostic | D | Supports Positive | 3 | accepted | EID6654PRKCB was mutated in 33% of ATLL cases. 93% of these mutations were within the catalytic domain at Asp427. This gene has not been reported to be significantly mutated in any other cancers. Indeed thi… (full text at CIViC) PMID 26437031 · Kataoka et al., 2015 · Open in CIViC | civic |
| PRKCB Mutation2 | ||||||||
| (prognostic) | Adult T-Cell Leukemia/Lymphoma | Prognostic | D | Supports Poor Outcome | 3 | submitted | EID11794For aggressive adult T cell leukemia/lymphoma (ATL), PRKCB mutations were associated with an adverse outcome (Hard Ratio: 2.07; 95% CI: 1.29-3.31; P-value: 0.003). In this study, 414 ATL patients were… (full text at CIViC) PMID 29084771 · Kataoka et al., 2018 · Open in CIViC | civic |
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11978The authors analyzed 304 primary DLBCLs using whole exome sequencing and targeted sequencing. This one one of the genes they identified as significantly enriched for somatic mutations. PMID 29713087 · Chapuy et al., 2018 · Open in CIViC | civic |
| PRKDC Mutation1 | ||||||||
| (oncogenic) | Diffuse Large B-Cell LymphomaCURATED_BROADER | Oncogenic | E | Supports Oncogenicity | 3 | submitted | EID11979This gene was identified as recurrently mutated in an analysis of 574 DLBCL exomes PMID 29641966 · Schmitz et al., 2018 · Open in CIViC | civic |
| PRPS1 A190T4 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | B | Supports Poor Outcome | 3 | accepted | EID7888PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 A190T was detected only at rel… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| Lometrexol + MercaptopurineCombination | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Sensitivity Response | 3 | accepted | EID7913Treatment with the GART inhibitor, Lometrexol (de novo purine synthesis inhibitor), sensitized Reh cells overexpressing PRPS1 A190T to mercaptopurine (6-MP) as evidenced by significant reduction of th… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| Mercaptopurine | ||||||||
| PRPS1 A190V2 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 3 | submitted | EID7887PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 A190V was detected only at rel… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| Mercaptopurine + ThioguanineSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Resistance | 4 | submitted | EID7908Lentiviral-mediated overexpression of PRPS1 A190V in Reh cells resulted in significant resistance against mercaptopurine (6-MP) and thioguanine (6-TG) as indicated by IC50 increases and reduced apopto… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| PRPS1 A87T1 | ||||||||
| Mercaptopurine + ThioguanineSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Does Not Support Resistance | 4 | accepted | EID7919Lentiviral-mediated overexpression of PRPS1 A87T in Reh cells resulted in similar cytotoxic response (IC50 and apoptosis %) compared to controls (empty vector and wildtype PRPS1 overexpression) after … (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| PRPS1 C77S1 | ||||||||
| Mercaptopurine + ThioguanineSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Does Not Support Resistance | 3 | accepted | EID7916Lentiviral-mediated overexpression of PRPS1 C77S in Reh cells resulted in similar cytotoxic response to controls (empty vector and overexpression of known reduced-function PRPS1 mutants) after exposur… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| PRPS1 D139G1 | ||||||||
| Mercaptopurine + ThioguanineSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Does Not Support Resistance | 3 | accepted | EID7915Lentiviral-mediated overexpression of PRPS1 D139G in Reh cells resulted in similar cytotoxic response to controls (empty vector and overexpression of known reduced-function PRPS1 mutants) after exposu… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| PRPS1 D183E3 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 3 | submitted | EID7879PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 D183E was detected only at rel… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| Mercaptopurine + ThioguanineSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Resistance | 4 | accepted | EID7900Lentiviral-mediated overexpression of PRPS1 D183E in Reh cells resulted in significant resistance against mercaptopurine (6-MP) and thioguanine (6-TG) as indicated by IC50 increases and reduced apopto… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| Asparaginase | ||||||||
| PRPS1 D183H1 | ||||||||
| Mercaptopurine + ThioguanineSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Supports Resistance | 4 | submitted | EID7897Lentiviral-mediated overexpression of D183H in Reh cells resulted in significant resistance against mercaptopurine (6-MP) and thioguanine (6-TG) as indicated by IC50 increases and reduced apoptosis co… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| PRPS1 G174E1 | ||||||||
| (prognostic) | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Prognostic | C | Supports Poor Outcome | 3 | submitted | EID7881PRPS1 exons were sequenced in the diagnosis and relapse samples of 358 B-Cell Childhood Acute Lymphoblastic Leukemia relapse patients (138 Chinese and 220 German). PRPS1 G174E was detected only at rel… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
Data updated 4 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.
| 3 |
| submitted |
EID7701This study evaluated the prevalence and outcome of Ph-like ALL subtype in patients wiiht standard-risk (SR) disease. A cohort of 1023 SR cases from the Children's Oncology Group AALL0331 clinical tria… (full text at CIViC) PMID 29997224 · Roberts et al., 2018 · Open in CIViC |
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| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | submitted | EID8098In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. In this study involving 798 B-ALL patients of whi… (full text at CIViC) PMID 27870571 · Roberts et al., 2017 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 3 | accepted | EID8105In B-lymphoblastic leukemia/lymphoma (B-ALL), the presence of this fusion is associated with so-called BCR/ABL1 like (Ph-like) subtype of the disease. In this study involving 373 high risk pediatric B… (full text at CIViC) PMID 27176795 · Imamura et al., 2016 · Open in CIViC | civic |
| 〃 | B Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like | Diagnostic | C | Supports Positive | 1 | submitted | EID11623B-ALL cases with high-risk clinical features or suggestion of a kinase rearrangement were subjected to low density gene expression array to determine Ph-like status. 1 patient (5.3 years old) with a P… (full text at CIViC) PMID 25207766 · Roberts et al., 2014 · Open in CIViC | civic |
| Diagnostic |
| B |
| Supports Positive |
| 3 |
| accepted |
EID7291Integrated genomic analysis was performed for 1,988 childhood and adult B-ALL cases. Forty four cases (2.2%) showed the P80R substitution in the DNA binding domain for the PAX5 transcription factor ge… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC |
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| (oncogenic) | B Acute Lymphoblastic Leukemia with PAX5 P80R MutationALIAS | Oncogenic | D | Supports Oncogenicity | 4 | submitted | EID11522To examine the effects of PAX5 P80R on B cell maturation, PAX5 WT, P80R, V26G, and P34Q were expressed in Pax5 depleted bone marrow cells. While PAX5 V26G and PAX5 P34Q could rescue B cell differentia… (full text at CIViC) PMID 30643249 · Gu et al., 2019 · Open in CIViC | civic |
| B Lymphoblastic Leukemia/LymphomaCURATED_BROADER |
| Predictive |
| D |
| Supports Resistance |
| 5 |
| accepted |
EID7909Lentiviral-mediated overexpression of PRPS1 A190T in Reh cells resulted in significant resistance against mercaptopurine (6-MP) and thioguanine (6-TG) as indicated by IC50 increases and reduced apopto… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC |
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| Asparaginase + Cytarabine + Daunorubicin + MethotrexateSubstitutes | B Lymphoblastic Leukemia/LymphomaCURATED_BROADER | Predictive | D | Does Not Support Resistance | 3 | accepted | EID7928Lentiviral-mediated overexpression of PRPS1 A190T in Reh cells resulted no difference in response to Methotrexate, Cytarabine, Daunorubicin, or L-Asparginase compared to empty vector and wildtype PRPS… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC | civic |
| B Lymphoblastic Leukemia/LymphomaCURATED_BROADER |
| Predictive |
| D |
| Does Not Support Resistance |
| 3 |
| accepted |
EID7927Lentiviral-mediated overexpression of PRPS1 D183E in Reh cells resulted no difference in response to Methotrexate, Cytarabine, Daunorubicin, or L-Asparginase compared to empty vector and wildtype PRPS… (full text at CIViC) PMID 25962120 · Li et al., 2015 · Open in CIViC |
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