Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.R51_W52Splc
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SDS

NM_006843.3:p.R51_W52Splc

Associated Papers

Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis.

Yamada K et al.

Molecular Genetics and Metabolism Reports, 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."