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TG c.2054dup ;(p.A686Cfs*4)
Variant ID: 8-133899668-T-TC
NM_003235.4(
TG
):c.2054dup;(p.A686Cfs*4)
This variant was identified in 6 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: 2053dupC
PubMed Link:
34417462
Variant Present in the following documents:
41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Precise allele-specific genome editing by spatiotemporal control of CRISPR-Cas9 via pronuclear transplantation.
Nature Communications
Li, Yanhe Y; Weng, Yuteng Y; Bai, Dandan D; Jia, Yanping Y; Liu, Yingdong Y; Zhang, Yalin Y; Kou, Xiaochen X; Zhao, Yanhong Y; Ruan, Jingling J; Chen, Jiayu J; Yin, Jiqing J; Wang, Hong H; Teng, Xiaoming X; Wang, Zuolin Z; Liu, Wenqiang W; Gao, Shaorong S
Publication Date: 2020-09-14
Variant appearance in text: TG: 2052dup
PubMed Link:
32929070
Variant Present in the following documents:
41467_2020_18391_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05
Variant appearance in text: TG: 2052dupC
PubMed Link:
32371905
Variant Present in the following documents:
41467_2020_16067_MOESM12_ESM.xlsx, sheet 9
View BVdb publication page
.
Emc. Pediatria
Noël, S S; Sermet-Gaudelus, I I
Publication Date: 2020-03
Variant appearance in text: TG: 2052dup
PubMed Link:
32288518
Variant Present in the following documents:
main.pdf
View BVdb publication page
Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.
Plos One
Pagin, Adrien A; Devos, Aurore A; Figeac, Martin M; Truant, Maryse M; Willoquaux, Christelle C; Broly, Franck F; Lalau, Guy G
Publication Date: 2016
Variant appearance in text: TG: 2052dup
PubMed Link:
26900683
Variant Present in the following documents:
Main text
pone.0149426.pdf
View BVdb publication page