Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Genetics in Medicine, Published online: 18 February 2020; doi:10.1038/s41436-020-0754-0Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Source: Genetics in Medicine - February 17, 2020 Category: Genetics & Stem Cells Authors: Xiao Chen Alba Sanchis-Juan Courtney E. French Andrew J. Connell Isabelle Delon Zoya Kingsbury Aditi Chawla Aaron L. Halpern Ryan J. Taft David R. Bentley Matthew E. R. Butchbach F. Lucy Raymond Michael A. Eberle Source Type: research