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late infantile neuronal ceroid lipofuscinosis
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
CLN5
PPT1
CLN6
TPP1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
vacuole organization
Peptidase S53, activation domain
Sedolisin domain
WIELAND_UP_BY_HBV_INFECTION
Peptidase S8/S53 domain superfamily
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Infantile neuronal ceroid lipofuscinosis
Brain from Cln1 and Cln5 deficient mice produced to explore NCL
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis.
Systemic administration of tripeptidyl peptidase I in a mouse model of late infantile neuronal ceroi…
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spa…
CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguine…
Large-volume intrathecal enzyme delivery increases survival of a mouse model of late infantile neuro…
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Clinical Trials
Most Relevant Clinical Trials
Safety Study of a Gene Transfer Vector for Children With Late Infantile Neuronal Ceroid Lipofuscinos…
Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis …
Safety Study of a Gene Transfer Vector (Rh.10) for Children With Late Infantile Neuronal Ceroid Lipo…
Gene Therapy for Children With Variant Late Infantile Neuronal Ceroid Lipofuscinosis 6 (vLINCL6) Dis…
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