Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.L277P
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PEX10

NM_002617.4:p.L277P

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

How to Detect Isolated PEX10-Related Cerebellar Ataxia?

Nava E et al.

Neuropediatrics, 2022

Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders.

Zhang C et al.

Clinical Neurology and Neurosurgery, 2019

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

Renaud M et al.

Journal of Neurology, 2016

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

Ebberink MS et al.

Human Mutation, 2011

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Steinberg SJ et al.

Journal of Inherited Metabolic Disease, 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."