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Article

Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed.

BMC genetics - 26 Aug 2016

Fenn Joe, Boursnell Mike, Hitti Rebekkah J, Jenkins Christopher A, Terry Rebecca L, Priestnall Simon L, Kenny Patrick J, Mellersh Cathryn S, Forman Oliver P

Abstract excerpt

BACKGROUND: Cerebellar cortical degeneration (CCD) is an increasingly recognised neurodegenerative disease process affecting many dog breeds. Typical presentation consists of a progressive cerebellar ataxia, with a variable age at onset and rate of progression between different breeds. Cerebellar histopathological findings typically consist of primary Purkinje neuronal degeneration and loss, with variable...

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Identifiers

PMID: 27566131
DOI: 10.1186/s12863-016-0433-y
PMCID: PMC5002145

Genes

SNX14

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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