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TG c.1313dup ;(p.N438Kfs*47)
Variant ID: 8-133898926-G-GA
NM_003235.4(
TG
):c.1313dup;(p.N438Kfs*47)
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: 1311dupA
PubMed Link:
34417462
Variant Present in the following documents:
41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.
Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019
Variant appearance in text: TG: 1313_1314insA
PubMed Link:
30608972
Variant Present in the following documents:
pone.0210079.s007.xlsx, sheet 21
pone.0210079.s007.xlsx, sheet 19
View BVdb publication page
Mutations in the CHD7 gene: the experience of a commercial laboratory.
Genetic Testing And Molecular Biomarkers
Bartels, Cynthia F CF; Scacheri, Cheryl C; White, Lashonda L; Scacheri, Peter C PC; Bale, Sherri S
Publication Date: 2010-12
Variant appearance in text: TG: 1310dupA
PubMed Link:
21158681
Variant Present in the following documents:
Main text
View BVdb publication page