Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.W13*
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BMPR2

NM_001204.7:p.W13*

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

Classification of Pulmonary Arterial Hypertension by Genetic and Familial Testing.

Larrañaga-Moreira JM et al.

Revista Espanola De Cardiologia (english Ed.), 2019

Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Abbasi Y et al.

Molecular Genetics & Genomic Medicine, 2018

Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.

Kim MJ et al.

Bmb Reports, 2017

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

Machado RD et al.

Human Mutation, 2015

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

Chida A et al.

The American Journal of Cardiology, 2012

Pulmonary arterial hypertension: insights from genetic studies.

Loyd JE

Proceedings of the American Thoracic Society, 2011

Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension.

Hamid R et al.

Clinical Genetics, 2010

BMPR2 mutations and endothelial dysfunction in pulmonary arterial hypertension (2017 Grover Conference Series).

Frump A 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."