Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS2
Variant:p.D386insFs
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HMGCS2

NM_001166107.1:p.D386insFs

Associated Papers

A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.

Lee T et al.

Jimd Reports, 2019

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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."