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
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
29980210 (PubMed )
Supplement: 12920_2018_372_MOESM1_ESM.pdf
CLN8 disease caused by large genomic deletions.
Beesley C et al.
Molecular Genetics & Genomic Medicine, 2017
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.
Allen NM et al.
Clinical Genetics, 2012
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