Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.F246insFs
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PPT1

NM_000310.4:p.F246insFs

Associated Papers

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

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients.

Sheth J et al.

Bmc Neurology, 2018

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

A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.

Sanders DN et al.

Molecular Genetics and Metabolism, 2010

DNA testing in neurologic diseases.

O'Brien DP et al.

Journal of Veterinary Internal Medicine, 0

Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5.

Gilliam D et al.

Molecular Genetics and Metabolism, 0

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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."