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CFTR c.2209_2211delinsGAG ;(p.S737E)
Variant ID: 7-117232430-TCC-GAG
NM_000492.3(
CFTR
):c.2209_2211delinsGAG;(p.S737E)
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:
The non-hydrolytic pathway of cystic fibrosis transmembrane conductance regulator ion channel gating.
The Journal Of Physiology
Aleksandrov, A A AA; Chang, X X; Aleksandrov, L L; Riordan, J R JR
Publication Date: 2000-10-15
Variant appearance in text: CFTR: S737E
PubMed Link:
11034616
Variant Present in the following documents:
Main text
View BVdb publication page