Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.S236insFs
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PEX10

NM_153818.2:p.S236insFs

Associated Papers

Identification of novel compound heterozygous variants in the PEX10 gene in a Han-Chinese family with PEX10-related peroxisome biogenesis disorders.

Huang X et al.

Plos One, 2025

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS et al.

Human Mutation, 2011

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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."