Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.L334*
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BMPR2

NM_001204.7:p.L334*

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_

Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.

Montani D et al.

The European Respiratory Journal, 2021

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

Ghigna MR et al.

The European Respiratory Journal, 2016

Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.

Sztrymf B et al.

American Journal of Respiratory and Critical Care Medicine, 2008

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD et al.

Human Mutation, 2006

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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."