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TG c.719dup ;(p.S240Rfs*8)
Variant ID: 8-133894187-A-AG
NM_003235.4(
TG
):c.719dup;(p.S240Rfs*8)
This variant was identified in 3 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: 719dupG
PubMed Link:
34417462
Variant Present in the following documents:
41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population.
Plos One
Tang, Liang L; Guo, Tao T; Yang, Rui R; Mei, Heng H; Wang, Huafang H; Lu, Xuan X; Yu, Jianming J; Wang, Qingyun Q; Hu, Yu Y
Publication Date: 2012
Variant appearance in text: TG: 719dupG
PubMed Link:
22545135
Variant Present in the following documents:
Main text
pone.0035773.pdf
View BVdb publication page
Identification of three novel NHS mutations in families with Nance-Horan syndrome.
Molecular Vision
Huang, Kristen M KM; Wu, Junhua J; Brooks, Simon P SP; Hardcastle, Alison J AJ; Lewis, Richard Alan RA; Stambolian, Dwight D
Publication Date: 2007-03-27
Variant appearance in text: TG: 718insG
PubMed Link:
17417607
Variant Present in the following documents:
Main text
View BVdb publication page