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CFTR c.685T>C ;(p.F229L)
Variant ID: 7-117175407-T-C
NM_000492.3(
CFTR
):c.685T>C;(p.F229L)
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:
Impact of the F508del mutation on ovine CFTR, a Cl- channel with enhanced conductance and ATP-dependent gating.
The Journal Of Physiology
Cai, Zhiwei Z; Palmai-Pallag, Timea T; Khuituan, Pissared P; Mutolo, Michael J MJ; Boinot, Clément C; Liu, Beihui B; Scott-Ward, Toby S TS; Callebaut, Isabelle I; Harris, Ann A; Sheppard, David N DN
Publication Date: 2015-06-01
Variant appearance in text: CFTR: F229L
PubMed Link:
25763566
Variant Present in the following documents:
Main text
View BVdb publication page