Varaico: Literature-Extracted Genetic Variants

Gene:HMGCL
Variant:p.T292_G293Splc
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HMGCL

NM_000191.3:p.T292_G293Splc

Associated Papers

Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.

Kahraman AB et al.

Turkish Archives of Pediatrics, 2025

Inborn errors of metabolism and coronavirus disease 2019: Evaluation of the metabolic outcome.

Zubarioglu T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2022

HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients.

Alfadhel M et al.

Frontiers in Genetics, 2022

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.

Grünert SC et al.

Orphanet Journal of Rare Diseases, 2020

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Grünert SC et al.

Molecular Genetics and Metabolism, 2017

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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."