Varaico: Literature-Extracted Genetic Variants

Gene:PEX14
Variant:p.Q180*
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PEX14

NM_004565.3:p.Q180*

Associated Papers

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

Alshenaifi J et al.

Clinical Genetics, 2019

Mondini dysplasia with recurrent bacterial meningitis caused by three different pathogens.

Shikano H et al.

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

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

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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."