Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.T249insFs
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PEX12

NM_000286.3:p.T249insFs

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

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

Steinberg S et al.

Molecular Genetics and Metabolism, 2004

Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

Chang CC et al.

American Journal of Human Genetics, 1998

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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."