Varaico: Literature-Extracted Genetic Variants

Gene:PPP5C
Variant:p.L57insFs
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PPP5C

NM_006247.4:p.L57insFs

Associated Papers

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.

Waliany S et al.

Human Mutation, 2000

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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."