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Publication

Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi.

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J Clin Invest2006PMID 16841094PMC1501112stubpubmedProvenance
Source
PubMed
Retrieved
Sep 8, 2026
Layer
normalized (units and labels harmonized; values unchanged)
Run
ING-CIVIC-20260908-000001
Published

Abstract

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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

Curated evidence

Evidence citing this paper (3)

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
16841094
Run
ING-CIVIC-20260908-000001
Open at source
CuratedShowing 1–3 of 3 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.
TherapyCancerTypeLevelDirection · significanceRating (1–5)StatusEvidenceSource
FGFR3 G370C1
(functional)—UNRESOLVEDFunctionalDSupports Gain Of Function2rejected
EID10414

1 patient's biopsy, which was the common soft subtype of keratinocytic epidermal nevi, displayed a double mutation of both FGFR3 G372C and G382R. The nevus from which the biopsy was taken displayed no… (full text at CIViC)

PMID 16841094 · Hafner et al., 2006 · Open in CIViC

civic
FGFR3 G380R1
(functional)—UNRESOLVEDFunctionalDSupports Gain Of Function1accepted
EID10415

A patient's biopsy, which was the common soft subtype of keratinocytic epidermal nevi, displayed a double mutation of both FGFR3 G372C (aka G370C) and G382R (aka G380R). The nevus from which the biops… (full text at CIViC)

PMID 16841094 · Hafner et al., 2006 · Open in CIViC

civic
FGFR3 R248C1
(functional)—UNRESOLVEDFunctionalDSupports Gain Of Function3submitted
EID10413

39 common nonepidermolytic, nonorganoid keratinocyte epidermal nevi were sampled from 33 patients and analyzed using a SNaPshot assay. FGFR3 R248C was found in 15/39 samples and 9/33 patients. The two… (full text at CIViC)

PMID 16841094 · Hafner et al., 2006 · Open in CIViC

civic