Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.A183T
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HSD17B10

NM_004493.3:p.A183T

Associated Papers

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Grünert SC et al.

Molecular Genetics and Metabolism, 2017

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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."