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TG c.2124dup ;(p.E709*)
Variant ID: 8-133899740-C-CT
NM_003235.4(
TG
):c.2124dup;(p.E709*)
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:
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: 2124dupT
PubMed Link:
34417462
Variant Present in the following documents:
41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Correlation between Family RB1 Gene Pathogenic Variant with Clinical Features and Prognosis of Retinoblastoma under 5 Years Old.
Disease Markers
Zhang, Yi Y; Wang, Yizhuo Y; Huang, Dongsheng D; Ma, Jianmin J; Zhang, Weiling W; Gu, Huali H; Zhou, Yan Y; Yi, You Y; Zhang, Pinwei P
Publication Date: 2021
Variant appearance in text: TG: 2124_2125insT
PubMed Link:
34336010
Variant Present in the following documents:
DM2021-9981028.pdf
View BVdb publication page