Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.A105Splc
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ACVRL1

NM_000020.3:p.A105Splc

Associated Papers

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

Heimdal K et al.

Clinical Genetics, 2016

Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations.

Saji N et al.

Journal of the Neurological Sciences, 2015

Characterization of 17 novel endoglin mutations associated with hereditary hemorrhagic telangiectasia.

Cymerman U et al.

Human Mutation, 2003

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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."