Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.N124D
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BMPR2

NM_001204.7:p.N124D

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_

Genetics and genomics of pulmonary arterial hypertension.

Machado RD et al.

Journal of the American College of Cardiology, 2009

Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.

Sztrymf B et al.

American Journal of Respiratory and Critical Care Medicine, 2008

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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."