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CFTR c.2503_2504delinsCG ;(p.D835R)
Variant ID: 7-117234996-GA-CG
NM_000492.3(
CFTR
):c.2503_2504delinsCG;(p.D835R)
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:
Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3.
The Journal Of Biological Chemistry
Wang, Guangyu G; Duan, Dayue Darrel DD
Publication Date: 2012-11-23
Variant appearance in text: CFTR: D835R
PubMed Link:
23060444
Variant Present in the following documents:
Main text
View BVdb publication page