Varaico: Literature-Extracted Genetic Variants

Gene:PEX5
Variant:p.S600W
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PEX5

NM_001351132.2:p.S600W

Associated Papers

The Peroxisomal Targeting Signal 1 in sterol carrier protein 2 is autonomous and essential for receptor recognition.

Williams CP et al.

Bmc Biochemistry, 2011

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Ebberink MS et al.

Human Mutation, 2009

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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."