Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.R937R
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BMPR2

NM_001204.7:p.R937R

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_

Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension.

Takashima T et al.

Frontiers in Cardiovascular Medicine, 2021

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

Pousada G et al.

Plos One, 2014

5'UTR repeat polymorphisms of the BMPR2 gene in children with pulmonary hypertension associated with congenital heart disease.

Limsuwan A et al.

Heart, Lung & Circulation, 2013

[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].

Portillo K et al.

Archivos De Bronconeumologia, 2010

Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.

Wang H et al.

Clinical Genetics, 2010

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

Machado RD et al.

Human Mutation, 2006

BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.

Sankelo M et al.

Human Mutation, 2005

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension.

Morisaki H et al.

Human Mutation, 2004

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

Machado RD et al.

American Journal of Human Genetics, 2001

Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.

Deng Z et al.

American Journal of Human Genetics, 2000

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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."