Varaico: Literature-Extracted Genetic Variants

Gene:PEX10
Variant:p.L113fs
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PEX10

NM_002617.4:p.L113fs

Associated Papers

Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.

Wang XM et al.

Stem Cell Research & Therapy, 2015

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."