PAH c.893G>A ;(p.S298N)

Variant ID: 12-103245484-C-T

NM_000277.1(PAH):c.893G>A;(p.S298N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

Scientific Reports
Pousada, Guillermo G; Lupo, Vincenzo V; Cástro-Sánchez, Sheila S; Álvarez-Satta, María M; Sánchez-Monteagudo, Ana A; Baloira, Adolfo A; Espinós, Carmen C; Valverde, Diana D
Publication Date: 2017-05-15

Variant appearance in text: PAH: 893G>A
PubMed Link: 28507310
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_2074.pdf
View BVdb publication page



Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations.

Scientific Reports
Pousada, Guillermo G; Baloira, Adolfo A; Valverde, Diana D
Publication Date: 2016-09-15

Variant appearance in text: PAH: 893G>A
PubMed Link: 27630060
Variant Present in the following documents:
  • Main text
View BVdb publication page