Varaico: Literature-Extracted Genetic Variants

Gene:ACAA2
Variant:p.S285F
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ACAA2

NM_006111.3:p.S285F

Associated Papers

A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature.

Vakili R et al.

Iranian Journal of Child Neurology, 2018

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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."