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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.
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1996 the hastings center report DOI: 10.5334/jcms.1965 239 views
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Optical Genome Mapping Enables Detection and Accurate Sizing of Repeat Expansions.
Facchini, Stefano;Dominik, Natalia;Manini, Arianna;Efthymiou, Stephanie;Currò, Riccardo;Rugginini, B...
2023 Biomolecules DOI: 1546 23 views

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American journal of human genetics
ISSN: 0002-9297 517 views
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