Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.S930*
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BMPR2

NM_001204.7:p.S930*

Associated Papers

The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.

Hayvaci Canbeyli F et al.

Pediatric Cardiology, 2026

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_

A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.

Barozzi C et al.

Scientific Reports, 2019

Genetics and genomics of pulmonary arterial hypertension.

Machado RD et al.

Journal of the American College of Cardiology, 2009

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

Machado RD et al.

Human Mutation, 2006

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.

Morisaki H et al.

Human Mutation, 2004

Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice.

Kobayashi H et al.

Pulmonary Circulation, 0

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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."