Varaico: Literature-Extracted Genetic Variants

Gene:PEX26
Variant:p.P117L
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PEX26

NM_001127649.3:p.P117L

Associated Papers

Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families.

Alayoubi AM et al.

Annals of Medicine, 2025

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease.

Yalçınkaya B et al.

Molecular Syndromology, 2024

Identification of a novel heterozygous variant in the PEX26 gene in an infant: a case report.

Huang Y et al.

Translational Pediatrics, 2024

Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis.

Judy RM et al.

Cells, 2022

PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome.

He Y et al.

Translational Pediatrics, 2021

Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency.

Lotz-Havla AS et al.

Frontiers in Genetics, 2021

Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools.

Vasiljevic E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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

Ebberink MS et al.

Human Mutation, 2011

Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.

Furuki S et al.

The Journal of Biological Chemistry, 2006

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

Weller S et al.

American Journal of Human Genetics, 2005

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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."