Varaico: Literature-Extracted Genetic Variants

Gene:PEX26
Variant:p.F51L
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PEX26

NM_001127649.3:p.F51L

Associated Papers

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

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

He Y et al.

Translational Pediatrics, 2021

Recent insights into peroxisome biogenesis and associated diseases.

Fujiki Y et al.

Journal of Cell Science, 2020

Peroxisome Biogenesis Disorders.

Honsho M et al.

Advances in Experimental Medicine and Biology, 2020

A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder.

Tanaka AJ et al.

Cold Spring Harbor Molecular Case Studies, 2019

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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."