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Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia
OBJECTIVE: To investigate the pathogenicity of a novel homozygous BRAT1 variant in 2 siblings with nonprogressive cerebellar ataxia (NPCA) through functional studies on primary and immortalized patient cell lines. METHODS: BRAT1 protein levels and ataxia-telangiectasia mutated (ATM) kinase activity...
Gorde:
| Argitaratua izan da: | Neurol Genet |
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| Egile Nagusiak: | , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Wolters Kluwer
2019
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6773431/ https://ncbi.nlm.nih.gov/pubmed/31742228 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000359 |
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