The alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

Philip M. Boone, Bo Yuan, Ian M. Campbell, Jennifer C. Scull, Marjorie A. Withers, Brett C. Baggett, Christine R. Beck, Christine J. Shaw, Pawel Stankiewicz, Paolo Moretti, Wendy E. Goodwin, Nichole Hein, John K. Fink, Moon Woo Seong, Soo Hyun Seo, Sung Sup Park, Izabela D. Karbassi, Sat Dev Batish, Andrés Ordóñez-Ugalde, Beatriz QuintánsMaría Jesús Sobrido, Susanne Stemmler, James R. Lupski

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