Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI.
- DOI
- 10.1038/s41431-026-02224-5
- Published
- 2026 Sep 12
- Container
- European journal of human genetics : EJHG
- Publisher
- Not recorded
- Open access
- unknown
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Cite this work
BibTeX
@article{allodium:10.1038/s41431-026-02224-5,
title = {Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI.},
author = {Pozojevic J and Sczakiel HL and Balachandran S and Kruse N and Mensah MA and Hülsemann W and Händler K and Spielmann M},
year = {2026},
journal = {European journal of human genetics : EJHG},
doi = {10.1038/s41431-026-02224-5},
url = {https://doi.org/10.1038/s41431-026-02224-5}
}RIS
TY - JOUR TI - Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI. AU - Pozojevic J AU - Sczakiel HL AU - Balachandran S AU - Kruse N AU - Mensah MA AU - Hülsemann W AU - Händler K AU - Spielmann M PY - 2026 JO - European journal of human genetics : EJHG DO - 10.1038/s41431-026-02224-5 UR - https://doi.org/10.1038/s41431-026-02224-5 ER -
APA
J, P., HL, S., S, B., N, K., MA, M., W, H., K, H., & M, S. (2026). Long-read sequencing reveals a hidden Alu-mediated splice defect in CPLANE1, causing orofaciodigital syndrome type VI.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-026-02224-5
Source records
- pubmed · retrieved 2026-09-26T00:19:31.427Z