Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.G252insFs
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OXCT1

NM_000436.4:p.G252insFs

Associated Papers

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.

Fukao T et al.

Journal of Human Genetics, 2019

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.

Fukao T et al.

Human Mutation, 1998

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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."