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CFTR c.1111_1112delinsGC ;(p.I371A)
Variant ID: 7-117180395-AT-GC
NM_000492.3(
CFTR
):c.1111_1112delinsGC;(p.I371A)
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:
Dynamic modulation of ANO1/TMEM16A HCO3(-) permeability by Ca2+/calmodulin.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Jung, Jinsei J; Nam, Joo Hyun JH; Park, Hyun Woo HW; Oh, Uhtaek U; Yoon, Joo-Heon JH; Lee, Min Goo MG
Publication Date: 2013-01-02
Variant appearance in text: CFTR: I371A
PubMed Link:
23248295
Variant Present in the following documents:
Main text
View BVdb publication page