Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.A490V
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BMPR2

NM_001204.7:p.A490V

Associated Papers

The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.

Okhrimenko G et al.

Respiratory Research, 2025

40229839 (PubMed )
Supplement: 12931_2025_3214_MOESM2_ESM.xlsx › Assessment_

Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension.

Chaikuad A et al.

Scientific Reports, 2019

A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.

Higasa K et al.

Bmc Pulmonary Medicine, 2017

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.

Elliott CG et al.

Circulation, 2006

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD et al.

Human Mutation, 2006

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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."