Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.A2fs
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PEX10

NM_002617.4:p.A2fs

Associated Papers

Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations.

Dranchak PK et al.

Journal of Cellular Biochemistry, 2011

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY 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."