Varaico: Literature-Extracted Genetic Variants

Gene:PEX19
Variant:p.M255insFs
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PEX19

NM_002857.4:p.M255insFs

Associated Papers

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect.

Klouwer FCC et al.

Frontiers in Cell and Developmental Biology, 2021

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

Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders.

Suzuki Y et al.

Journal of Inherited Metabolic Disease, 2001

[Clinical and molecular aspects of peroxisome-deficient disorders].

Suzuki Y et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1993

[Clinical biochemical and genetic aspects of peroxisome-deficient disorders].

Suzuki Y

No to Hattatsu = Brain and Development, 1992

Genetic and molecular bases of peroxisome biogenesis disorders.

Suzuki Y et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."