Associated Papers
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 2021
34992632 (PubMed )
Supplement: Table3.XLSX › Sheet1
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E et al.
Human Mutation, 2019
Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
Chang X et al.
Brain & Development, 2012
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