Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.W484*
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BMPR2

NM_001204.7:p.W484*

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_

TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension.

Zhang X et al.

Pulmonary Circulation, 2022

35514780 (PubMed )
Supplement: PUL2-12-e12076-s001.pdf

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

Machado RD et al.

Human Mutation, 2015

Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.

Chen YJ et al.

European Journal of Clinical Investigation, 2013

Genetics and genomics of pulmonary arterial hypertension.

Machado RD et al.

Journal of the American College of Cardiology, 2009

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

Zhang X et al.

Pulmonary Circulation, 0

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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."