Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.V165delFs
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OXCT1

NM_000436.4:p.V165delFs

Associated Papers

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Sasai H et al.

Journal of Inherited Metabolic Disease, 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."