ASHG Platform Presentation: A whole exon targeted PCR/Nanopore sequencing assay that reveals SNVs, indels and CNVs across SMN1 and SMN2 with implications for SMA carriers and disease severity
Authors:
Pranesh Rao, Jon Kemppainen, Cody Edwards, Walairat Laosinchai-Wolf, Nisha Vishag, Dr. Bradley Hall, Dr. Gary Latham, Ryan Routsong, Dr. Bradley Martin, Dr. Bryan Killinger, Christopher J. Fraher