Publication
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
Authors not recorded
Hum Genet2010PMID 20165957PMC2854849stubpubmedProvenance
- Source
- PubMed
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CIVIC-20260908-000001
Abstract
Abstract (excerpt)
Only the opening of the abstract is shown; abstract text may carry publisher copyright.
Data not yet available
No abstract stored. Read on PubMed
Linked entities
Linked entities (2)
How each link was made (MeSH, dictionary, registry reference, curation…) and whether it has been validated. Candidate links are not counted in entity statistics.
Validated 2
- geneTSC1civic_curation1.00
- variantTSC1 R1062Wcivic_curation1.00
Curated evidence
Evidence citing this paper (1)
civicProvenance
- Source
- CIViC — Clinical Interpretation of Variants in Cancer
- Dataset
- CIViC evidence items
- Version
- civic-2026-09-08
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- expert curation
- License
- CC0 1.0
- PMID
- 20165957
- Run
- ING-CIVIC-20260908-000001
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| TSC1 R1062W1 | ||||||||
| (predisposing) | Tuberous SclerosisUNRESOLVED | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID1768Deep sequencing of TSC1 and TSC2 was performed on blood from a group of 38 sporadic Tuberous Sclerosis patients who had been previously studied with no mutation identified in TSC1 or TSC2. Five patien… (full text at CIViC) PMID 20165957 · Qin et al., 2010 · Open in CIViC | civic |