Varaico: Literature-Extracted Genetic Variants

Gene:ALK
Variant:p.S413I
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ALK

NM_004304.5:p.S413I

Associated Papers

Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

Gallione CJ et al.

Human Genetics, 2000

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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."