Bibliome.ai browser hg19
Search
About
Stats
FAQ
CFTR c.1116+2T>A
Variant ID: 7-117180402-T-A
NM_000492.3(
CFTR
):c.1116+2T>A
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:
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
Plos One
Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M
Publication Date: 2014
Variant appearance in text: CFTR: 1116+2T>A
PubMed Link:
24586523
Variant Present in the following documents:
Main text
View BVdb publication page