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Comprehensive Genetic Diagnosis of Tandem Repeat Expansion Disorders with Programmable Targeted Nanopore Sequencing

Igor Stevanovski,Sanjog R. Chintalaphani,Hasindu Gamaarachchi,James M. Ferguson,Sandy S. Pineda,Carolin K. Scriba,Michel Tchan,Victor Fung,Karl Ng,Andrea Cortese,Henry Houlden,Carol Dobson-Stone,Lauren Fitzpatrick,Glenda Halliday,Gianina Ravenscroft,Mark R. Davis,Nigel G. Laing,Avi Fellner,Marina Kennerson,Kishore R. Kumar,Ira W. Deveson

SCIENCE ADVANCES（2022）

Cited 92|Views47
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Exome Sequencing
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