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Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data.

Pubmed ID: 
32407596
Year: 
2020
Month: 
May
Citation: 
Rafehi H, Szmulewicz DJ, Pope K, Wallis M, Christodoulou J, White SM, Delatycki MB, Lockhart PJ, Bahlo M. Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data. Movement disorders : official journal of the Movement Disorder Society (2020) PubMed