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CFTR c.2771A>C ;(p.D924A)
Variant ID: 7-117243699-A-C
NM_000492.3(
CFTR
):c.2771A>C;(p.D924A)
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:
Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.
The Journal Of General Physiology
Yeh, Han-I HI; Qiu, Liming L; Sohma, Yoshiro Y; Conrath, Katja K; Zou, Xiaoqin X; Hwang, Tzyh-Chang TC
Publication Date: 2019-07-01
Variant appearance in text: CFTR: D924A
PubMed Link:
31164398
Variant Present in the following documents:
Main text
JGP_201912360.pdf
View BVdb publication page