Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.A79P
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PEX6

NM_000287.4:p.A79P

Associated Papers

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Ebberink MS et al.

Human Mutation, 2010

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY et al.

Human Mutation, 2009

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."