Varaico: Literature-Extracted Genetic Variants

Gene:PEX14
Variant:p.Q185*
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PEX14

NM_004565.3:p.Q185*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Alshenaifi J et al.

Clinical Genetics, 2019

Peroxisome biogenesis deficiency attenuates the BDNF-TrkB pathway-mediated development of the cerebellum.

Abe Y et al.

Life Science Alliance, 2018

First Japanese case of Zellweger syndrome with a mutation in PEX14.

Komatsuzaki S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

PEX14 is required for microtubule-based peroxisome motility in human cells.

Bharti P et al.

Journal of Cell Science, 2011

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

Ebberink MS et al.

Human Mutation, 2011

Identification of a novel PEX14 mutation in Zellweger syndrome.

Huybrechts SJ et al.

Journal of Medical Genetics, 2008

Peroxisome biogenesis disorders.

Steinberg SJ et al.

Biochimica Et Biophysica Acta, 2006

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.

Shimozawa N et al.

Human Mutation, 2004

A clinical case of Zellweger syndrome in a patient with a previous history of ocular medulloepithelioma.

Galvez-Ruiz A et al.

Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society, 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."