Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.Y79C
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TPP1

NM_000391.4:p.Y79C

Associated Papers

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.

Mitchison HM et al.

Human Molecular 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."