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Identification of Structural Variants Relevant to Autism by Pacific Biosciences HiFi Whole-Genome Sequencing

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Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing

Elvisa Mehinovic, Teddi Gray, M. Campbell, et al. (2021). American Journal of Medical Genetics. Part a. Cited 12 times. https://doi.org/10.1002/ajmg.a.62743