Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B4
Variant:p.A24V
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HSD17B4

NM_000414.4:p.A24V

Associated Papers

Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

Sawyer SL et al.

Human Mutation, 2014

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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."