Varaico: Literature-Extracted Genetic Variants

Gene:PEX2
Variant:p.P91fs
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PEX2

NM_000318.3:p.P91fs

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

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

Steinberg S et al.

Molecular Genetics and Metabolism, 2004

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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."