Varaico: Literature-Extracted Genetic Variants

Gene:HMGCS2
Variant:p.T489fs
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HMGCS2

NM_005518.4:p.T489fs

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

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

Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report.

Liu H et al.

Bmc Pediatrics, 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."