Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.A453D
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TPP1

NM_000391.4:p.A453D

Associated Papers

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.

Guelbert G et al.

Frontiers in Neurology, 2022

36034292 (PubMed )
Supplement: Table_1.XLSX › SA_C_cohort

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

Gardner E et al.

Human Mutation, 2019

Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.

Kohan R et al.

Gene, 2013

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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."