Varaico: Literature-Extracted Genetic Variants

Gene:PEX19
Variant:p.K107delFs
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PEX19

NM_002857.4:p.K107delFs

Associated Papers

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

Alayoubi AM et al.

Annals of Medicine, 2025

Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia.

Mohamed S et al.

Pediatrics and Neonatology, 2015

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

Ebberink MS et al.

Human Mutation, 2011

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.

Mohamed S et al.

American Journal of Medical Genetics. Part A, 2010

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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."