Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B10
Variant:p.D119_V120Splc
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HSD17B10

NM_004493.3:p.D119_V120Splc

Associated Papers

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.

Sass JO et al.

Molecular Genetics and Metabolism, 2008

Inborn errors of isoleucine degradation: a review.

Korman SH

Molecular Genetics and Metabolism, 2006

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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."