Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.E376_V377Splc
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BMPR2

NM_001204.7:p.E376_V377Splc

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_

[Hereditary pulmonary hypertension family with BMPR2 gene variation: a case report and literature review].

Lin YK et al.

Zhonghua Jie He He Hu Xi Za Zhi = Zhonghua Jiehe He Huxi Zazhi = Chinese Journal of Tuberculosis and Respiratory Diseases, 2023

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

Chida A et al.

The American Journal of Cardiology, 2012

Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Pfarr N et al.

Respiratory Research, 2011

High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Cogan JD et al.

American Journal of Respiratory and Critical Care Medicine, 2006

Primary pulmonary hypertension may be a heterogeneous disease with a second locus on chromosome 2q31.

Rindermann M et al.

Journal of the American College of Cardiology, 2003

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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."