Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.T793T
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BMPR2

NM_001204.7:p.T793T

Associated Papers

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

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

Morisaki H et al.

Human Mutation, 2004

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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."