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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BLTP2

Variant:p.P124_F130del0

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BLTP2

NM_014680.5:p.P124_F130del0

hg38:chr17:28643170 GAAGATCTTCAATAAGGAT>G

Associated Papers

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.

Ferdinandusse S et al.

Human Mutation, 2007

17458872 (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."