Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.Y113*
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BMPR2

NM_001204.7:p.Y113*

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_

Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan.

Liang KW et al.

Frontiers in Cardiovascular Medicine, 2022

BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension.

Ghigna MR et al.

The European Respiratory Journal, 2016

Alu-mediated nonallelic homologous and nonhomologous recombination in the BMPR2 gene in heritable pulmonary arterial hypertension.

Kataoka M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.

Chida A et al.

The American Journal of Cardiology, 2012

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.

Liu D et al.

The European Respiratory Journal, 2012

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

Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.

Fujiwara M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

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