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TBX6 c.28T>G ;(p.S10A)
Variant ID: 16-30102487-A-C
NM_004608.3(
TBX6
):c.28T>G;(p.S10A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants.
American Journal Of Human Genetics
Sharo, Andrew G AG; Hu, Zhiqiang Z; Sunyaev, Shamil R SR; Brenner, Steven E SE
Publication Date: 2022-02-03
Variant appearance in text: TBX6: S10A
PubMed Link:
35032432
Variant Present in the following documents:
mmc2.pdf
main.pdf
View BVdb publication page
Sequence signatures extracted from proximal promoters can be used to predict distal enhancers.
Genome Biology
Taher, Leila L; Smith, Robin P RP; Kim, Mee J MJ; Ahituv, Nadav N; Ovcharenko, Ivan I
Publication Date: 2013
Variant appearance in text: TBX6: S10A
PubMed Link:
24156763
Variant Present in the following documents:
Main text
View BVdb publication page