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TG c.751dup ;(p.E251Gfs*6)
Variant ID: 8-133894717-T-TG
NM_003235.4(
TG
):c.751dup;(p.E251Gfs*6)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants.
Frontiers In Genetics
Khandakji, Mohannad N MN; Mifsud, Borbala B
Publication Date: 2022
Variant appearance in text: TG: 751dup
PubMed Link:
36246618
Variant Present in the following documents:
Table1.xlsx, sheet 3
View BVdb publication page
Haplotype-resolved de novo assembly of the Vero cell line genome.
Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20
Variant appearance in text: TG: 750dupG
PubMed Link:
34417462
Variant Present in the following documents:
41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page