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TBX6 c.1211C>T ;(p.A404V)
Variant ID: 16-30097646-G-A
NM_004608.3(
TBX6
):c.1211C>T;(p.A404V)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Plos Computational Biology
Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R
Publication Date: 2014-09
Variant appearance in text: TBX6: A404V
PubMed Link:
25188385
Variant Present in the following documents:
pcbi.1003825.s014.xlsx, sheet 1
View BVdb publication page