Varaico: Literature-Extracted Genetic Variants

Gene:PEX26
Variant:p.T77Splc
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PEX26

NM_001127649.3:p.T77Splc

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

Fetal exome sequencing: yield and limitations in a tertiary referral center.

Daum H et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2019

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."