Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.V340ins1
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ACAT1

NM_000019.4:p.V340ins1

Associated Papers

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

Zhang GX et al.

Pediatric Research, 2004

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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."