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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| Hlavní autoři: | , , , , , , , , |
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| Médium: | Revisão |
| Jazyk: | angličtina |
| Vydáno: |
2021
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| On-line přístup: | https://doi.org/10.3233/jhd-200448 https://content.iospress.com:443/download/journal-of-huntingtons-disease/jhd200448?id=journal-of-huntingtons-disease%2Fjhd200448 |
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