Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.P472insFs
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PEX6

NM_000287.4:p.P472insFs

Associated Papers

Expanding the clinical and genetic spectrum of Heimler syndrome.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2019

31831025 (PubMed )
Supplement: 13023_2019_1243_MOESM5_ESM.pdf

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Ebberink MS et al.

Human Mutation, 2010

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

Krause C et al.

Human Mutation, 2006

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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."