Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.K230fs
Back to variants list

BMPR2

NM_001204.7:p.K230fs

Associated Papers

High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Cogan JD et al.

American Journal of Respiratory and Critical Care Medicine, 2006

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

Machado RD et al.

American Journal of Human Genetics, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."