Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.A478D
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ACVRL1

NM_000020.3:p.A478D

Associated Papers

Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.

Agnew C et al.

Nature Communications, 2021

34400635 (PubMed )
Supplement: 41467_2021_25248_MOESM1_ESM.pdf

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

Machado RD et al.

Human Mutation, 2015

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

Chida A et al.

The American Journal of Cardiology, 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."