Autor: Jelena Pozojevic
-
Long-read sequencing reveals a hidden Alu-mediated splice defect in <i>CPLANE1</i>, causing orofaciodigital syndrome type VI
European Journal of Human Genetics, Published online: 12 September 2026; doi:10.1038/s41431-026-02224-5Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI
-
Long-read sequencing reveals a hidden Alu-mediated splice defect in <i>CPLANE1</i>, causing orofaciodigital syndrome type VI
European Journal of Human Genetics, Published online: 12 September 2026; doi:10.1038/s41431-026-02224-5Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI