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.
Revue:
Human Genetics and Genomics Advances

ISSN: 2666-2477

Année de publication: 2024

Volumen: 5

Número: 3

Type: Article

DOI: 10.1016/J.XHGG.2024.100314 GOOGLE SCHOLAR lock_openAccès ouvert editor
La source de données: Scopus