Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.R770delFs
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BMPR2

NM_001204.7:p.R770delFs

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_

Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.

Montani D et al.

The European Respiratory Journal, 2021

EIF2AK4 mutation as "second hit" in hereditary pulmonary arterial hypertension.

Eichstaedt CA et al.

Respiratory Research, 2016

Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool.

Song J et al.

Clinical Science (london, England : 1979), 2016

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

Machado RD et al.

Human Mutation, 2015

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Pfarr N et al.

Respiratory Research, 2011

Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension.

Rosenzweig EB et al.

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 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."