SMAD1 c.8T>C ;(p.V3A)

Variant ID: 4-146435773-T-C

NM_005900.2(SMAD1):c.8T>C;(p.V3A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
Publication Date: 2015-12

Variant appearance in text: SMAD1: 8T>C; V3A
PubMed Link: 26387786
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.

Scientifica
Machado, Rajiv D RD
Publication Date: 2012

Variant appearance in text: SMAD1: V3A
PubMed Link: 24278664
Variant Present in the following documents:
  • Main text
  • SCIENTIFICA2012-106576.pdf
View BVdb publication page