Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS2
Variant:p.R228*
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HMGCS2

NM_005518.4:p.R228*

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

Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese Patients.

Nguyen KN et al.

International Journal of Molecular Sciences, 2025

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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