Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.E489E
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BMPR2

NM_001204.7:p.E489E

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 and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

Pousada G et al.

Scientific Reports, 2017

Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations.

Pousada G et al.

Scientific Reports, 2016

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

Pousada G et al.

Plos One, 2014

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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."