• Media type: E-Article
  • Title: P046: ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics
  • Contributor: Mayowa Osundiji; Jessie Cameron; Rory Olson; Bukola Olarewaju; Andreas Schulze
  • Published: 2024
  • Published in: Genetics in Medicine Open, 2 (2024)
  • Language: English
  • DOI: 10.1016/j.gimo.2024.100923
  • ISSN: 2949-7744
  • Origination:
  • Footnote:
  • Access State: Open Access