Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.E302K
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TPP1

NM_000391.4:p.E302K

Associated Papers

A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.

Lourenço CM et al.

Arquivos De Neuro-psiquiatria, 2024

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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."