Varaico: Literature-Extracted Genetic Variants

Gene:PEX26
Variant:p.R13delFs
Back to variants list

PEX26

NM_001127649.3:p.R13delFs

Associated Papers

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

Alayoubi AM et al.

Annals of Medicine, 2025

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

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

Ebberink MS et al.

Human Mutation, 2011

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY et al.

Human Mutation, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."