Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.C296F
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PEX10

NM_153818.2:p.C296F

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

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype.

Yamashita T et al.

Journal of the Neurological Sciences, 2017

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

Renaud M et al.

Journal of Neurology, 2016

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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."