• Media type: E-Article
  • Title: ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics
  • Contributor: Jessie M. Cameron; Mayowa Azeez Osundiji; Rory J. Olson; Bukola A. Olarewaju; Andreas Schulze
  • Published: 2024
  • Published in: Genetics in Medicine Open, 2 (2024)
  • Language: English
  • DOI: 10.1016/j.gimo.2024.101815
  • ISSN: 2949-7744
  • Origination:
  • Footnote:
  • Access State: Open Access