Associated Papers
CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.
Sharkia R et al.
Genes, 2022
Neuronal ceroid lipofuscinoses type 8: Expanding genotype/phenotype diversity-first report from Saudi Arabia.
Alkhars FZ et al.
Neurosciences (riyadh, Saudi Arabia), 2020
Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.
Gao Z et al.
Bmc Medical Genetics, 2018
CLN8 disease caused by large genomic deletions.
Beesley C et al.
Molecular Genetics & Genomic Medicine, 2017
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