SMAD7 c.1173G>T ;(p.T391=)

Variant ID: 18-46447850-C-A

NM_005904.3(SMAD7):c.1173G>T;(p.T391=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Association of two variants in SMAD7 with the risk of congenital heart disease in the Han Chinese population.

Plos One
Wang, Erli E; Jin, Wenfei W; Duan, Wenyuan W; Qiao, Bin B; Sun, Shuna S; Huang, Guoying G; Shi, Kaihu K; Jin, Li L; Wang, Hongyan H
Publication Date: 2013

Variant appearance in text: N/A
PubMed Link: 24039762
Variant Present in the following documents:
View BVdb publication page