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CFTR c.1037_1038insA ;(p.R347Afs*17)
Variant ID: 7-117180321-T-TA
NM_000492.3(
CFTR
):c.1037_1038insA;(p.R347Afs*17)
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:
Molecular Analysis of Cystic Fibrosis Patients in Hungary - An Update to the Mutational Spectrum.
Journal Of Medical Biochemistry
Ivády, Gergely G; Koczok, Katalin K; Madar, Laszlo L; Gombos, Eva E; Toth, Izabella I; Gyori, Klaudia K; Balogh, István I
Publication Date: 2015-01
Variant appearance in text: CFTR: 1037_1038insA
PubMed Link:
28356823
Variant Present in the following documents:
Main text
jomb-2014-0055.pdf
View BVdb publication page