Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.S292delFs
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PEX12

NM_000286.3:p.S292delFs

Associated Papers

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Ebberink MS et al.

Human Mutation, 2011

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."