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.




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