Varaico: Literature-Extracted Genetic Variants

Gene:TPP1
Variant:p.A448D
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TPP1

NM_000391.4:p.A448D

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

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.

Lourenço CM et al.

Journal of Paediatrics and Child Health, 2021

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