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Published in 2021 at "Genetics in Medicine"
DOI: 10.1038/s41436-021-01104-1
Abstract: With great interest, we read the publication by Roux et al. about the occurrence of STUB1 variants in mostly dominant cerebellar ataxias. We here provide data on heterozygous STUB1 variants observed in 46 patients in…
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Keywords:
cause;
stub1;
age;
ataxia patients ... See more keywords