Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.D339fs
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ACAT1

NM_000019.4:p.D339fs

Associated Papers

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Abdelkreem E et al.

Human Mutation, 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."