Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.D487H
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BMPR2

NM_001204.7:p.D487H

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_

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry.

Cruz-Utrilla A et al.

International Journal of Molecular Sciences, 2022

36142358 (PubMed )
Supplement: ijms-23-10433-s001.zip › Table_S1.pdf

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

Castaño JAT et al.

Genes, 2020

33007923 (PubMed )
Supplement: genes-11-01158-s001.zip › genes-941403-supplementary.xlsx › Supplementary_Table_1

Molecular Analysis of BMPR2, TBX4, and KCNK3 and Genotype-Phenotype Correlations in Spanish Patients and Families With Idiopathic and Hereditary Pulmonary Arterial Hypertension.

Navas P et al.

Revista Espanola De Cardiologia (english Ed.), 2016

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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."