Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.G319R
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ACVRL1

NM_000020.3:p.G319R

Associated Papers

Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.

Yuan J et al.

Thrombosis Research, 2024

Association of the gene polymorphisms of BMPR2, ACVRL1, SMAD9 and their interactions with the risk of essential hypertension in the Chinese Han population.

Chen Y et al.

Bioscience Reports, 2019

Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture.

Piao C et al.

Clinical Science (london, England : 1979), 2016

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

Machado RD et al.

Human Mutation, 2015

Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.

Zhang X et al.

Pulmonary Circulation, 0

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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."