Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.W399L
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ACVRL1

NM_000020.3:p.W399L

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

High Frequency of Pulmonary Hypertension-Causing Gene Mutation in Chinese Patients with Chronic Thromboembolic Pulmonary Hypertension.

Xi Q et al.

Plos One, 2016

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

Machado RD et al.

Human Mutation, 2015

Pulmonary arterial hypertension as the first manifestation in a patient with hereditary hemorrhagic telangiectasia.

Ishiwata T et al.

Internal Medicine (tokyo, Japan), 2014

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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."