Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.S305F
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ACVRL1

NM_000020.3:p.S305F

Associated Papers

Investigation of the Genetic Determinants of Telangiectasia and Solid Organ Arteriovenous Malformation Formation in Hereditary Hemorrhagic Telangiectasia (HHT).

Whitehead KJ et al.

International Journal of Molecular Sciences, 2024

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F et al.

The Journal of Molecular Diagnostics : Jmd, 2007

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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."