Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS2
Variant:p.M146R
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HMGCS2

NM_005518.4:p.M146R

Associated Papers

Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.

Arnedo M et al.

International Journal of Molecular Sciences, 2025

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Puisac B et al.

International Journal of Molecular Sciences, 2018

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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."