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CFTR c.746A>C ;(p.D249A)
Variant ID: 7-117176604-A-C
NM_000492.3(
CFTR
):c.746A>C;(p.D249A)
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:
Disease-Homologous Mutation in the Cation Diffusion Facilitator Protein MamM Causes Single-Domain Structural Loss and Signifies Its Importance.
Scientific Reports
Barber-Zucker, Shiran S; Uebe, René R; Davidov, Geula G; Navon, Yotam Y; Sherf, Dror D; Chill, Jordan H JH; Kass, Itamar I; Bitton, Ronit R; Schüler, Dirk D; Zarivach, Raz R
Publication Date: 2016-08-23
Variant appearance in text: CFTR: D249A
PubMed Link:
27550551
Variant Present in the following documents:
Main text
srep31933.pdf
View BVdb publication page