Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.K173E
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OXCT1

NM_000436.4:p.K173E

Associated Papers

A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene.

Zheng DJ et al.

Journal of Pediatric Intensive Care, 2018

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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."