Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.L164S
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CLN8

NM_018941.4:p.L164S

Associated Papers

PCR-based detection of hereditary mutations in SLC2A9, BTBD17, and NECAP1 among native Korean dog breeds.

Kang M et al.

Journal of Veterinary Science, 2025

40765230 (PubMed )
Supplement: jvs-26-e48-s001.xls › Supplementary_Table_1

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.

Meadows JRS et al.

Genome Biology, 2023

37582787 (PubMed )
Supplement: 13059_2023_3023_MOESM1_ESM.xlsx › Table_S16

Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant.

Guo J et al.

Molecular Genetics and Metabolism Reports, 2019

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.

Katz ML et al.

Neurobiology of Disease, 2017

Homozygous PPT1 Splice Donor Mutation in a Cane Corso Dog With Neuronal Ceroid Lipofuscinosis.

Kolicheski A et al.

Journal of Veterinary Internal Medicine, 2017

Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.

Kolicheski A et al.

Journal of Veterinary Internal Medicine, 2016

Molecular genetics of the NCLs -- status and perspectives.

Siintola E et al.

Biochimica Et Biophysica Acta, 2006

A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis.

Katz ML et al.

Biochemical and Biophysical Research Communications, 2005

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