Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.A448V
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TPP1

NM_000391.4:p.A448V

Associated Papers

Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Gardner E et al.

Human Mutation, 2019

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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."