Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.G463delFs
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ACVRL1

NM_000020.3:p.G463delFs

Associated Papers

Imaging manifestations of hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension: a case report.

Qin G et al.

Frontiers in Cardiovascular Medicine, 2025

40190465 (PubMed )
Supplement: Table2.pdf

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

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

Machado RD et al.

Human Mutation, 2015

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.

Eyries M et al.

Clinical Genetics, 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."