Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.C94G
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BMPR2

NM_001204.7:p.C94G

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_

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM1_ESM.xlsx › Suppl._Dataset_1

BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension.

Ghigna MR et al.

The European Respiratory Journal, 2016

BMPRII influences the response of pulmonary microvascular endothelial cells to inflammatory mediators.

Vengethasamy L et al.

Pflugers Archiv : European Journal of Physiology, 2016

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

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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."