Associated Papers
The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.
Hayvaci Canbeyli F et al.
Pediatric Cardiology, 2026
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_
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.
Eichstaedt CA et al.
Human Mutation, 2025
Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.
Eichstaedt CA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects.
Möller T et al.
Scandinavian Cardiovascular Journal : Scj, 2010
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