Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.L199L
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CTSD

NM_001909.5:p.L199L

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

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

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 cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis.

Awano T et al.

Molecular Genetics and Metabolism, 2006

Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis.

Shacka JJ et al.

Autophagy, 0

DNA testing in neurologic diseases.

O'Brien DP et al.

Journal of Veterinary Internal Medicine, 0

Phenotypic and genetic aspects of hereditary ataxia in dogs.

Stee K et al.

Journal of Veterinary Internal Medicine, 0

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