Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.S532*
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BMPR2

NM_001204.7:p.S532*

Associated Papers

Endothelial β-arrestins regulate mechanotransduction by the type II bone morphogenetic protein receptor in primary cilia.

Park S et al.

Pulmonary Circulation, 2022

BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension.

Chowdhury HM et al.

Human Molecular Genetics, 2019

Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension.

Nasim MT et al.

Human Molecular Genetics, 2008

Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension.

Rudarakanchana N et al.

Human Molecular Genetics, 2002

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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."