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Application of Optical Genome Mapping to the Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy 1.
Seung Tae Lee
Published in:
Annals of laboratory medicine (2024)
Keyphrases
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muscular dystrophy
high resolution
genome wide
duchenne muscular dystrophy
high speed
dna methylation
high density
copy number
mass spectrometry