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CFTR c.223_224delinsGC ;(p.R75A)
Variant ID: 7-117149146-CG-GC
NM_000492.3(
CFTR
):c.223_224delinsGC;(p.R75A)
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:
Alanine substitution scanning of pannexin1 reveals amino acid residues mediating ATP sensitivity.
Purinergic Signalling
Qiu, Feng F; Wang, Junjie J; Dahl, Gerhard G
Publication Date: 2012-03
Variant appearance in text: CFTR: R75A
PubMed Link:
21987098
Variant Present in the following documents:
Main text
View BVdb publication page