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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PEX5

Variant:p.N520_D521Splc

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PEX5

NM_001351132.2:p.N520_D521Splc

hg38:chr12:7209681 A>C

Associated Papers

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Ebberink MS et al.

Human Mutation, 2009

18712838 (PubMed )

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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."