Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.
- DOI
- 10.1167/iovs.67.10.1
- Published
- 2026 Aug 3
- Container
- Investigative ophthalmology & visual science
- Publisher
- Not recorded
- Open access
- yes
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Cite this work
BibTeX
@article{allodium:10.1167/iovs.67.10.1,
title = {Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.},
author = {Holtes LK and Chen D and Guilfoyle S and O'Leary H and Corral-Serrano JC and Boonen EGM and Haer-Wigman L and Nieuwenhuis SE and Guarascio R and Toulis V and Andrade de Jesus D and Cremers FPM and Thiadens AAHJ and Cheetham ME and de Bruijn SE and Hardcastle AJ and Roosing S},
year = {2026},
journal = {Investigative ophthalmology \& visual science},
doi = {10.1167/iovs.67.10.1},
url = {https://doi.org/10.1167/iovs.67.10.1}
}RIS
TY - JOUR TI - Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification. AU - Holtes LK AU - Chen D AU - Guilfoyle S AU - O'Leary H AU - Corral-Serrano JC AU - Boonen EGM AU - Haer-Wigman L AU - Nieuwenhuis SE AU - Guarascio R AU - Toulis V AU - Andrade de Jesus D AU - Cremers FPM AU - Thiadens AAHJ AU - Cheetham ME AU - de Bruijn SE AU - Hardcastle AJ AU - Roosing S PY - 2026 JO - Investigative ophthalmology & visual science DO - 10.1167/iovs.67.10.1 UR - https://doi.org/10.1167/iovs.67.10.1 ER -
APA
LK, H., D, C., S, G., H, O., JC, C., EGM, B., L, H., SE, N., R, G., V, T., D, A. D. J., FPM, C., AAHJ, T., ME, C., SE, D. B., AJ, H., & S, R. (2026). Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.. Investigative ophthalmology & visual science. https://doi.org/10.1167/iovs.67.10.1
Source records
- pubmed · retrieved 2026-09-27T09:10:31.601Z