Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.H280D
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ACVRL1

NM_000020.3:p.H280D

Associated Papers

Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension donors.

Al Tabosh T et al.

Angiogenesis, 2024

Pathogenic Variant Frequencies in Hereditary Haemorrhagic Telangiectasia Support Clinical Evidence of Protection from Myocardial Infarction.

Jain K et al.

Journal of Clinical Medicine, 2023

38202257 (PubMed )
Supplement: jcm-13-00250-s001.zip › jcm-2748090-supplementary.pdf

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients.

Lesca G et al.

Human Mutation, 2006

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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."