Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.Q918*
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BMPR2

NM_001204.7:p.Q918*

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_

Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension.

Tóth EN et al.

The European Respiratory Journal, 2024

38991711 (PubMed )
Supplement: ERJ-00442-2024.Supplement.pdf

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.

van den Heuvel LM et al.

Genes, 2020

Bone Morphogenetic Protein Receptor Type 2 Mutation in Pulmonary Arterial Hypertension: A View on the Right Ventricle.

van der Bruggen CE et al.

Circulation, 2016

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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."