Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.A182insFs
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AMACR

NM_014324.6:p.A182insFs

Associated Papers

Peroxisomal disorders: the single peroxisomal enzyme deficiencies.

Wanders RJ et al.

Biochimica Et Biophysica Acta, 2006

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

Ferdinandusse S et al.

American Journal of Human Genetics, 2006

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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."