Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.F12S
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PEX6

NM_000287.4:p.F12S

Associated Papers

PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic.

Benson MD et al.

Ophthalmology Science, 2021

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Ebberink MS et al.

Human Mutation, 2010

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

Steinberg S et al.

Molecular Genetics and Metabolism, 2004

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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."