Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.W195*
Back to variants list

CLN8

NM_018941.4:p.W195*

Associated Papers

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

Cocostîrc V et al.

Animals : an Open Access Journal From Mdpi, 2023

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

Neuronal ceroid lipofuscinosis in Salukis is caused by a single base pair insertion in CLN8.

Lingaas F et al.

Animal Genetics, 2018

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

Katz ML et al.

Neurobiology of Disease, 2017

Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.

Hirz M et al.

Molecular Genetics and Metabolism, 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 CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry.

Guo J et al.

Molecular Genetics and Metabolism, 2014

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."