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lipofuscinosis
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
CLN8
PPT1
MFSD8
CLN3
CTSD
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Pathway Enrichment
Most Correlated Biogroups
PILON_KLF1_TARGETS_DN
vacuole organization
regulation of lysosomal lumen pH
Palmitoyl-protein thioesterase 1
Palmitoyl protein thioesterase
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Curated Studies
Most Correlated Studies
Leukocytes of autosomal dominant neronal ceroid lipofuscinosis (Kufs disease) patients
Neuronal ceroid lipofuscinosos Cln1/5 double knock-out mouse model
Fibroblasts from juvenile neuronal ceroid lipofuscinosis patients treated with trehalose
Lymphocyte gene expression in patients with rapid, average, and slow progressing CLN3 disease
OMIM - Metabolic disease
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Literature
Most Relevant Literature
Seminal Vesicle Stromal Lipofuscinosis: A Rare Incidental Finding with Potential for Misdiagnosis.
Recent insights into the networking of CLN genes and proteins in mammalian cells.
Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease.
The LINCE Project: A Pathway for Diagnosing NCL2 Disease.
TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lip…
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Clinical Trials
Most Relevant Clinical Trials
Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinos…
Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis
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