TY  - RPRT
TI  - Clinical and functional characterization of a novel homozygous non-canonical splice mutation (c.1910-15_1910-11delinsTTACA) in CEP290 causing Joubert syndrome.
AU  - Valeriia A Kovalskaia
AU  - Dmitriy N Maslennikov
AU  - Ksenia A Svirepova
AU  - Vyacheslav Y Tabakov
AU  - Polina N Tsabai
AU  - Evgenii V Shchoka
AU  - Nikita S Beskorovainiy
AU  - Jekaterina Shubina
AU  - Dmitry Y Trofimov
AU  - Oxana P Ryzhkova
PY  - 2026
DO  - 10.1186/s40246-026-01002-0
UR  - https://pubmed.ncbi.nlm.nih.gov/42271513/
ID  - 42271513
ER  -