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CFTR c.2843_2844delinsGT ;(p.L948C)
Variant ID: 7-117243771-TA-GT
NM_000492.3(
CFTR
):c.2843_2844delinsGT;(p.L948C)
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:
Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.
Biochemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-05-15
Variant appearance in text: CFTR: L948C
PubMed Link:
22545782
Variant Present in the following documents:
Main text
bi300065z.pdf
View BVdb publication page