Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.G593R
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ABCD1

NM_000033.4:p.G593R

Associated Papers

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.

Crane DI et al.

Human Mutation, 2005

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.

Walter C et al.

American Journal of Human Genetics, 2001

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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."