Associated Papers
TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2.
Vafaei N et al.
Molecular Syndromology, 2024
Neuronal ceroid lipofuscinosis type 2: an Australian case series.
Johnson AM et al.
Journal of Paediatrics and Child Health, 2020
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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