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SLC25A12 Missense Variant in Nova Scotia Duck Tolling Retrievers Affected by Cerebellar Degeneration—Myositis Complex (CDMC)

We investigated two litters of distantly related Nova Scotia Duck Tolling Retrievers (NSDTR), of which four puppies were affected by cerebellar signs with or without neuromuscular weakness. The phenotype was termed cerebellar degeneration—myositis complex (CDMC). We suspected a heritable condition a...

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Detalles Bibliográficos
Autores principales: Christen, Matthias, Rupp, Stefan, Van Soens, Iris, Bhatti, Sofie F. M., Matiasek, Kaspar, von Klopmann, Thilo, Jagannathan, Vidhya, Madden, Indiana, Batcher, Kevin, Bannasch, Danika, Leeb, Tosso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319113/
https://www.ncbi.nlm.nih.gov/pubmed/35886006
http://dx.doi.org/10.3390/genes13071223

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