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CFTR c.1565A>G ;(p.K522R)
Variant ID: 7-117199690-A-G
NM_000492.3(
CFTR
):c.1565A>G;(p.K522R)
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:
Multiple transport functions of a red blood cell anion exchanger, tAE1: its role in cell volume regulation.
The Journal Of Physiology
Guizouarn, H H; Gabillat, N N; Motais, R R; Borgese, F F
Publication Date: 2001-09-01
Variant appearance in text: CFTR: K522R
PubMed Link:
11533139
Variant Present in the following documents:
Main text
View BVdb publication page