• Media type: E-Article
  • Title: P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing
  • Contributor: Ruby Liu; Babi Ramesh Reddy Nallamilli; Christin Collins; Lora Bean; Madhuri Hegde
  • Published: 2024
  • Published in: Genetics in Medicine Open, 2 (2024)
  • Language: English
  • DOI: 10.1016/j.gimo.2024.101505
  • ISSN: 2949-7744
  • Origination:
  • Footnote:
  • Access State: Open Access