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CFTR c.1422A>T ;(p.E474D)
Variant ID: 7-117199547-A-T
NM_000492.3(
CFTR
):c.1422A>T;(p.E474D)
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:
Flexible-to-rigid transition is central for substrate transport in the ABC transporter BmrA from Bacillus subtilis.
Communications Biology
Lacabanne, Denis D; Orelle, Cédric C; Lecoq, Lauriane L; Kunert, Britta B; Chuilon, Claire C; Wiegand, Thomas T; Ravaud, Stéphanie S; Jault, Jean-Michel JM; Meier, Beat H BH; Böckmann, Anja A
Publication Date: 2019
Variant appearance in text: CFTR: E474D
PubMed Link:
31044174
Variant Present in the following documents:
Main text
View BVdb publication page