Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.D123N
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AMACR

NM_014324.6:p.D123N

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

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 acetyl-coA racemase deficiency. Magnetic resonance imaging findings of three patients with encephalopathy, epilepsy, and stroke-like episodes.

Palacio-Montoya MI et al.

The Neuroradiology Journal, 2024

Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation.

Isa HM et al.

Cureus, 2023

Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.

Alsalamah AK et al.

Molecular Vision, 2021

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.

Haugarvoll K et al.

Orphanet Journal of Rare Diseases, 2013

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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."