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CFTR c.2735C>G ;(p.S912W)
Variant ID: 7-117243663-C-G
NM_000492.3(
CFTR
):c.2735C>G;(p.S912W)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.
Plos One
Pagin, Adrien A; Devos, Aurore A; Figeac, Martin M; Truant, Maryse M; Willoquaux, Christelle C; Broly, Franck F; Lalau, Guy G
Publication Date: 2016
Variant appearance in text: CFTR: 2735C>G; S912W
PubMed Link:
26900683
Variant Present in the following documents:
Main text
pone.0149426.pdf
View BVdb publication page