Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.L255insFs
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PEX10

NM_002617.4:p.L255insFs

Associated Papers

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

Mutations in PEX10 are a cause of autosomal recessive ataxia.

Régal L et al.

Annals of Neurology, 2010

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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."