Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.W298*
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BMPR2

NM_001204.7:p.W298*

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

Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension.

Pousada G et al.

Bmc Genetics, 2016

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

Machado RD et al.

Human Mutation, 2015

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

Pousada G et al.

Plos One, 2014

Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.

Zhang X et al.

Pulmonary Circulation, 0

34966542 (PubMed )
Supplement: sj-pdf-7-pul-10.1177_20458940211044577.pdf
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