Varaico: Literature-Extracted Genetic Variants

Gene:PEX3
Variant:p.R300*
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PEX3

NM_003630.3:p.R300*

Associated Papers

Identification of a new frameshift homozygous variant of PEX3 gene in a preterm infant with profound global developmental delay and bilateral ptosis: a case report and updated literature review.

Su J et al.

Bmc Pediatrics, 2026

The Effect of a Pex3 Mutation on Hearing and Lipid Content of the Inner Ear.

Kochaj RM et al.

Cells, 2022

Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review.

Lee W et al.

Molecular Genetics and Metabolism Reports, 2020

Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.

Maxit C et al.

Jimd Reports, 2017

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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."