Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.A142P
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OXCT1

NM_000436.4:p.A142P

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

Rare cause of high anion gap metabolic acidosis in an infant: Succinyl-CoA:3-ketoacid transferase deficiency.

Yıldız Y et al.

Journal of Paediatrics and Child Health, 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."