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Multi-site Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.
Milligan JN, Larson JL, Filipovic-Sadic S, Laosinchai-Wolf W, Huang YW, Ko TM, Abbott KM, Lemmink HH, Toivonen M, Schleutker J, Gentile C, Van Deerlin VM, Zhu H, Latham GJ. Milligan JN, et al. Among authors: huang yw. J Mol Diagn. 2021 Mar 30:S1525-1578(21)00069-6. doi: 10.1016/j.jmoldx.2021.03.004. Online ahead of print. J Mol Diagn. 2021. PMID: 33798739
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