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CFTR c.1019T>C ;(p.I340T)
Variant ID: 7-117180303-T-C
NM_000492.3(
CFTR
):c.1019T>C;(p.I340T)
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:
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.
European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12
Variant appearance in text: CFTR: 1019T>C
PubMed Link:
33262486
Variant Present in the following documents:
Main text
41431_2020_Article_741.pdf
View BVdb publication page