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CFTR c.1478A>T ;(p.Q493L)
Variant ID: 7-117199603-A-T
NM_000492.3(
CFTR
):c.1478A>T;(p.Q493L)
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:
Molecular basis of cystic fibrosis disease: an Indian perspective.
Indian Journal Of Clinical Biochemistry : Ijcb
Prasad, R R; Sharma, H H; Kaur, G G
Publication Date: 2010-10
Variant appearance in text: CFTR: Q493L
PubMed Link:
21966101
Variant Present in the following documents:
Main text
View BVdb publication page