ECD c.818T>G ;(p.V273G)

Variant ID: 10-74912145-A-C

NM_007265.2(ECD):c.818T>G;(p.V273G)

This variant was identified in 1 publication

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: ECD: 818T>G
PubMed Link: 26387786
Variant Present in the following documents:
  • Main text
View BVdb publication page