Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.S312N
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TPP1

NM_000391.4:p.S312N

Associated Papers

Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.

Luo S et al.

Frontiers in Genetics, 2020

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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."