Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.R47Q
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ACVRL1

NM_000020.3:p.R47Q

Associated Papers

The Role of Genetics in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.

Hayvaci Canbeyli F et al.

Pediatric Cardiology, 2026

Molecular genetic framework underlying pulmonary arterial hypertension.

Southgate L et al.

Nature Reviews. Cardiology, 2020

New pathogenic variant of BMPR2 in pulmonary arterial hypertension.

Yang X et al.

Cardiology in the Young, 2019

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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."