Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.Y375C
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ACVRL1

NM_000020.3:p.Y375C

Associated Papers

Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.

Kim BG et al.

Clinical and Experimental Otorhinolaryngology, 2021

33677851 (PubMed )
Supplement: ceo-2020-02124-suppl.pdf

Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.

Zhao Y et al.

Molecular Genetics & Genomic Medicine, 2019

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

Machado RD et al.

Human Mutation, 2015

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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."