RFC1-Related Disease: Molecular and Clinical Insights

In 2019, a biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) was reported as a cause of cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). In addition, biallelic expansions were shown to account for up to 22% of cases wit...

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Detalles Bibliográficos
Autores principales: Davies, Kayli, Szmulewicz, David J., Corben, Louise A., Delatycki, Martin, Lockhart, Paul J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9425222/
https://www.ncbi.nlm.nih.gov/pubmed/36046423
http://dx.doi.org/10.1212/NXG.0000000000200016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9425222/
https://www.ncbi.nlm.nih.gov/pubmed/36046423
http://dx.doi.org/10.1212/NXG.0000000000200016

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