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CFTR c.591G>A ;(p.L197=)
Variant ID: 7-117175313-G-A
NM_000492.3(
CFTR
):c.591G>A;(p.L197=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.
Scientific Reports
Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G
Publication Date: 2016-08-22
Variant appearance in text: CFTR: L197L
PubMed Link:
27545006
Variant Present in the following documents:
srep31628-s2.xls, sheet 2
View BVdb publication page
Could a defective epithelial sodium channel lead to bronchiectasis.
Respiratory Research
Fajac, Isabelle I; Viel, Marion M; Sublemontier, Sébastien S; Hubert, Dominique D; Bienvenu, Thierry T
Publication Date: 2008-05-28
Variant appearance in text: CFTR: 591G>A
PubMed Link:
18507830
Variant Present in the following documents:
Main text
1465-9921-9-46.pdf
View BVdb publication page