Varaico: Literature-Extracted Genetic Variants

Gene:PEX6
Variant:p.R229insFs
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PEX6

NM_000287.4:p.R229insFs

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

Rational diagnostic strategy for Zellweger syndrome spectrum patients.

Krause C et al.

European Journal of Human Genetics : Ejhg, 2009

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."