Varaico: Literature-Extracted Genetic Variants

Gene:PEX26
Variant:p.L85insFs
Back to variants list

PEX26

NM_001127649.3:p.L85insFs

Associated Papers

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

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

Weller S et al.

American Journal of Human Genetics, 2005

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."