Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.L438_A440delFs
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PEX6

NM_000287.4:p.L438_A440delFs

Associated Papers

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.

Levesque S et al.

Bmc Medical Genetics, 2012

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

Yik WY et al.

Human Mutation, 2009

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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."