Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.T102A
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BMPR2

NM_001204.7:p.T102A

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_

Molecular genetic framework underlying pulmonary arterial hypertension.

Southgate L et al.

Nature Reviews. Cardiology, 2020

New pathogenic variant of BMPR2 in pulmonary arterial hypertension.

Yang X et al.

Cardiology in the Young, 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

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

Machado RD et al.

Human Mutation, 2006

BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease.

Roberts KE et al.

The European Respiratory Journal, 2004

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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."