HIGHLIGHTS
- who: Fanni Annamu00e1ria Boros and collaborators from the Department of Neurology, University of, have published the paper: Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene, in the Journal: (JOURNAL)
- what: The authors propose that CCDC88C mutations may exert their effects through different and possibly in much broader yet unexplored biological processes. The authors describe the clinical features of a Hungarian spinocerebellar ataxia patient carrying a heterozygous novel CCDC88C missense mutation and compare it with the phenotypes of the previously reported SCA40 subjects. The authors report . . .
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