Varaico: Literature-Extracted Genetic Variants

Gene:SCYL1
Variant:p.G153G
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SCYL1

NM_020680.4:p.G153G

Associated Papers

Variant in SCYL1 gene causes aberrant splicing in a family with cerebellar ataxia, recurrent episodes of liver failure, and growth retardation.

Shohet A et al.

European Journal of Human Genetics : Ejhg, 2019

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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."