Varaico: Literature-Extracted Genetic Variants

Gene:PEX5
Variant:p.E241insFs
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PEX5

NM_001351132.2:p.E241insFs

Associated Papers

Detection of a Novel Homozygous PEX5 Stop-Loss Variant Associated with Zellweger Syndrome in a Highly Endogamic Family.

Bernal-Bonilla IT et al.

The Application of Clinical Genetics, 2025

A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.

Ali M et al.

Human Genetics, 2021

The type-2 peroxisomal targeting signal.

Kunze M

Biochimica Et Biophysica Acta. Molecular Cell Research, 2020

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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."