Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.R209_G210Splc
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PPT1

NM_000310.4:p.R209_G210Splc

Associated Papers

Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.

Lyly A et al.

Bmc Cell Biology, 2007

Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).

Salonen T 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."