Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.L296delFs
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PEX12

NM_000286.3:p.L296delFs

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

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."