repeat expansions

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1
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Rafehi, Haloom;Szmulewicz, David J;Bennett, Mark F;Sobreira, Nara L M;Pope, Kate;Smith, Katherine R;...
2019 American journal of human genetics DOI: S0002-9297(19)30203-... 249 views
2
Screening for cognitive impairment among patients with neuromyelitis optica using touchscreen cognitive testing in routine clinical care.
Cotter, Jack;Trew, Fiona;Colville, Shuna;Lyle, Dawn;Cranley, Denise;Cormack, Francesca;Barnett, Jenn...
2019 journal of neurology DOI: 10.1007/s00415-019-0... 270 views

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American journal of human genetics
ISSN: 0002-9297 519 views
journal of neurology
ISSN: 1432-1459 514 views

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whole-genome sequencing ataxia short tandem repeats canvas