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CFTR c.1043T>G ;(p.M348R)
Variant ID: 7-117180327-T-G
NM_000492.3(
CFTR
):c.1043T>G;(p.M348R)
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:
Electrostatic tuning of the pre- and post-hydrolytic open states in CFTR.
The Journal Of General Physiology
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2017-03-06
Variant appearance in text: CFTR: M348R
PubMed Link:
28242630
Variant Present in the following documents:
Main text
JGP_201611664.pdf
JGP_201611664_sm.pdf
View BVdb publication page