Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.C34*
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ACVRL1

NM_000020.3:p.C34*

Associated Papers

Pulmonary hypertension in hereditary haemorrhagic telangiectasia is associated with multiple clinical conditions.

Margelidon-Cozzolino V et al.

Erj Open Research, 2021

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."