Varaico: Literature-Extracted Genetic Variants

Gene:OXCT1
Variant:p.R468H
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OXCT1

NM_000436.4:p.R468H

Associated Papers

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Fukao T et al.

Biochimica Et Biophysica Acta, 2011

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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."