Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.G42Splc
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PPT1

NM_000310.4:p.G42Splc

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

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.

Cocostîrc V et al.

Animals : an Open Access Journal From Mdpi, 2023

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."