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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACAA2

Variant:p.P160A

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ACAA2

NM_006111.3:p.P160A

hg38:chr18:49794379 G>C

Associated Papers

Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report.

Guo J et al.

World Journal of Clinical Cases, 2021

34786414 (PubMed )

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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."