@misc{indiciaedf023f89f53a,
  title = {Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15\_1910-11delinsTTACA) in CEP290 causing Joubert syndrome.},
  author = {Valeriia A Kovalskaia and Dmitriy N Maslennikov and Ksenia A Svirepova and Vyacheslav Y Tabakov and Polina N Tsabai and Evgenii V Shchoka and Nikita S Beskorovainiy and Jekaterina Shubina and Dmitry Y Trofimov and Oxana P Ryzhkova},
  year = {2026},
  doi = {10.1186/s40246-026-01002-0},
  url = {https://pubmed.ncbi.nlm.nih.gov/42271513/},
  note = {Source identifier: 42271513}
}