Varaico: Literature-Extracted Genetic Variants

Gene:PEX3
Variant:p.I110_S111delFs
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PEX3

NM_003630.3:p.I110_S111delFs

Associated Papers

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect.

Klouwer FCC et al.

Frontiers in Cell and Developmental Biology, 2021

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS et al.

Human Mutation, 2011

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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."