Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.L107P
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AMACR

NM_014324.6:p.L107P

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

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

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

Gündüz M et al.

The Turkish Journal of Pediatrics, 2019

Non-synonymous variants in the AMACR gene are associated with schizophrenia.

Bespalova IN et al.

Schizophrenia Research, 2010

Alpha-methylacyl-CoA racemase from Mycobacterium tuberculosis. Mutational and structural characterization of the active site and the fold.

Savolainen K et al.

The Journal of Biological Chemistry, 2005

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.

Ferdinandusse S et al.

Nature Genetics, 2000

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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."