Varaico: Literature-Extracted Genetic Variants

Gene:ACAT1
Variant:p.D186N
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ACAT1

NM_000019.4:p.D186N

Associated Papers

A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.

Fukao T et al.

Molecular Genetics and Metabolism, 2010

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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."