Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.A175S
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HSD17B4

NM_000414.4:p.A175S

Associated Papers

Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia.

Matsuda Y et al.

Neurology. Genetics, 2020

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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."