Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients

  1. Zeuli, R.
  2. Karali, M.
  3. de Bruijn, S.E.
  4. Rodenburg, K.
  5. Scarpato, M.
  6. Capasso, D.
  7. Astuti, G.D.N.
  8. Gilissen, C.
  9. Rodríguez-Hidalgo, M.
  10. Ruiz-Ederra, J.
  11. Testa, F.
  12. Simonelli, F.
  13. Cremers, F.P.M.
  14. Banfi, S.
  15. Roosing, S.
Journal:
Human Genetics and Genomics Advances

ISSN: 2666-2477

Year of publication: 2024

Volume: 5

Issue: 3

Type: Article

DOI: 10.1016/J.XHGG.2024.100314 GOOGLE SCHOLAR lock_openOpen access editor
Data source: Scopus