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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACAT2

Variant:p.D144A

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ACAT2

NM_005891.3:p.D144A

hg38:chr6:159768569 A>C

Associated Papers

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

Abdelkreem E et al.

Human Mutation, 2019

31268215 (PubMed )

Supplement: HUMU-40-1641-s001.pdf

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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."