Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.C20Y
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AMACR

NM_014324.6:p.C20Y

Associated Papers

Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.

Selamioğlu A et al.

Jimd Reports, 2024

Alpha methyl acyl CoA racemase deficiency: Diagnosis with isolated elevated liver enzymes.

Gündüz M et al.

The Turkish Journal of Pediatrics, 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."