Varaico: Literature-Extracted Genetic Variants

Gene:PEX12
Variant:p.L103fs
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PEX12

NM_000286.3:p.L103fs

Associated Papers

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.

Gootjes J et al.

European Journal of Human Genetics : Ejhg, 2004

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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."