Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia

  1. Tarilonte, M.
  2. Ramos, P.
  3. Moya, J.
  4. Fernandez-Sanz, G.
  5. Blanco-Kelly, F.
  6. Swafiri, S.T.
  7. Villaverde, C.
  8. Romero, R.
  9. Tamayo, A.
  10. Gener, B.
  11. Calvas, P.
  12. Ayuso, C.
  13. Corton, M.
Journal:
Journal of Medical Genetics

ISSN: 1468-6244 0022-2593

Year of publication: 2022

Volume: 59

Issue: 5

Pages: 428-437

Type: Article

DOI: 10.1136/JMEDGENET-2020-106932 GOOGLE SCHOLAR