FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders

FAN1 encodes a DNA repair nuclease. Genetic deficiencies, copy number variants, and single nucleotide variants of FAN1 have been linked to karyomegalic interstitial nephritis, 15q13.3 microdeletion/microduplication syndrome (autism, schizophrenia, and epilepsy), cancer, and most recently repeat expa...

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Detalles Bibliográficos
Autores principales: Deshmukh, Amit L., Porro, Antonio, Mohiuddin, Mohiuddin, Lanni, Stella, Panigrahi, Gagan B., Caron, Marie-Christine, Masson, Jean-Yves, Sartori, Alessandro A., Pearson, Christopher E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990447/
https://www.ncbi.nlm.nih.gov/pubmed/33579867
http://dx.doi.org/10.3233/JHD-200448

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7990447/
https://www.ncbi.nlm.nih.gov/pubmed/33579867
http://dx.doi.org/10.3233/JHD-200448

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