Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline

CAG-expanded ATXN7 has been previously defined in the pathogenesis of spinocerebellar ataxia type 7 (SCA7), a polyglutamine expansion autosomal dominant cerebellar ataxia. Pathology in SCA7 occurs as a result of a CAG triplet repeat expansion in excess of 37 in the first exon of ATXN7, which encodes...

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Detalles Bibliográficos
Autores principales: Nath, Siddharth, Caron, Nicholas S., May, Linda, Gluscencova, Oxana B., Kolesar, Jill, Brady, Lauren, Kaufman, Brett A., Boulianne, Gabrielle L., Rodriguez, Amadeo R., Tarnopolsky, Mark A., Truant, Ray
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9010413/
https://www.ncbi.nlm.nih.gov/pubmed/35422034
http://dx.doi.org/10.1038/s41439-022-00188-8

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