Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.P15delFs
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BMPR2

NM_001204.7:p.P15delFs

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_

CRISPR-mediated Bmpr2 point mutation exacerbates late pulmonary vasculopathy and reduces survival in rats with experimental pulmonary hypertension.

Kabwe JC et al.

Respiratory Research, 2022

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

Machado RD et al.

Human Mutation, 2006

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

Machado RD et al.

American Journal of Human Genetics, 2001

A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype.

Oriaku I 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."