Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS2
Variant:p.G209D
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HMGCS2

NM_005518.4:p.G209D

Associated Papers

Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.

Grünert SC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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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."