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TG c.3816_3817del ;(p.E1272Dfs*37)
Variant ID: 8-133919114-AGT-A
NM_003235.4(
TG
):c.3816_3817del;(p.E1272Dfs*37)
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: TG: 3816_3817delGT
PubMed Link:
24586523
Variant Present in the following documents:
Main text
pone.0089094.pdf
View BVdb publication page