Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.C117R
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BMPR2

NM_001204.7:p.C117R

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_

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.

Zhao Q et al.

Radiology, 2023

37191488 (PubMed )
Supplement: ry222488suppa1.pdf

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.

Liu D et al.

The European Respiratory Journal, 2012

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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."