Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.G68fs
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ACVRL1

NM_000020.3:p.G68fs

Associated Papers

Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients.

Assis AM et al.

Journal of Human Genetics, 2007

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG et al.

Human Genetics, 2005

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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."