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CFTR c.283_284delinsGC ;(p.K95A)
Variant ID: 7-117170962-AA-GC
NM_000492.3(
CFTR
):c.283_284delinsGC;(p.K95A)
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:
Mechanisms of CFTR Folding at the Endoplasmic Reticulum.
Frontiers In Pharmacology
Kim, Soo Jung SJ; Skach, William R WR
Publication Date: 2012
Variant appearance in text: CFTR: K95A
PubMed Link:
23248597
Variant Present in the following documents:
Main text
fphar-03-00201.pdf
View BVdb publication page