Varaico: Literature-Extracted Genetic Variants

Gene:HADH
Variant:p.L130F
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HADH

NM_005327.7:p.L130F

Associated Papers

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.

Zschocke J

Journal of Inherited Metabolic Disease, 2012

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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."