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RFC1 Repeat Expansion Analysis from Whole Genome Sequencing Data Simplifies Screening and Increases Diagnostic Rates

Roisin Sullivan,Sai Chen,Christopher T Saunders,Wai Yan Yau,Yee Yen Goh,Emer O’Connor,Natalia Dominik,Valentina Galassi Deforie,Heba Morsy,Andrea Cortese,Henry Houlden,Michael A. Eberle,Jana Vandrovcova

medrxiv（2024）

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