Varaico: Literature-Extracted Genetic Variants

Gene:PPP5C
Variant:p.I55F
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PPP5C

NM_006247.4:p.I55F

Associated Papers

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

Das AK et al.

The Journal of Clinical Investigation, 1998

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."