Varaico: Literature-Extracted Genetic Variants

Gene:CSH2
Variant:p.S111S
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CSH2

NM_020991.4:p.S111S

Associated Papers

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Handschug K et al.

Human Molecular Genetics, 2001

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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."