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A Single NGS‐based Assay Covering the Entire Genomic Sequence of the DMD Gene Facilitates Diagnostic and Newborn Screening Confirmatory Testing

Babi R. R. Nallamilli,Alka Chaubey,C. A. Valencia,Leah Stansberry,Andrea M. Behlmann,Zeqiang Ma,Abhinav Mathur,Suresh Shenoy,Vidya Ganapathy,Lakshmanan Jagannathan,Vinish Ramachander,Alessandra Ferlini,Lora Bean,Madhuri Hegde

Human Mutation（2021）

Cited 35|Views11
Key words
DMD,Duchenne muscular dystrophy,molecular diagnosis,newborn screening,next&#8208,generation sequencing
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