Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS2
Variant:p.R206C
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HMGCS2

NM_005518.4:p.R206C

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

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

Arnedo M et al.

International Journal of Molecular Sciences, 2025

Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients.

Wu S et al.

Frontiers in Genetics, 2021

Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency.

Wang Q et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020

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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."