Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.K50R
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AMACR

NM_014324.6:p.K50R

Associated Papers

α-Methylacyl-CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia.

Rashedi R et al.

Movement Disorders Clinical Practice, 2024

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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."