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CFTR c.790G>A ;(p.E264K)
Variant ID: 7-117176648-G-A
NM_000492.3(
CFTR
):c.790G>A;(p.E264K)
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:
Collection of the Abstracts of the 2019Sp PMD: Translational Myology and Mobility Medicine.
European Journal Of Translational Myology
Carraro, Ugo U
Publication Date: 2019-01-11
Variant appearance in text: CFTR: E264K
PubMed Link:
31019666
Variant Present in the following documents:
Main text
ejtm-29-1-8155.pdf
View BVdb publication page