Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis
Author:
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference65 articles.
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3. Late-onset childhood neuronal ceroid lipofuscinosis: early clinical and electroencephalographic markers;Beltran;Epilepsy Res.,2018
4. Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2;Benedict;J. Neurosci. Res.,2009
5. Exacerbated neuronal ceroid lipofuscinosis phenotype in Cln1/5 double-knockout mice;Blom;Dis. Model. Mech.,2013
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