Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.M1I
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CLN5

NM_006493.4:p.M1I

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

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

Mole SE et al.

Human Mutation, 1999

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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."