First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an Irish RPGR Pedigree with X-Linked Retinitis Pigmentosa.
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| Title: | First Exonic Cryptic Branchpoint Variant in an Inherited Retinal Degeneration Detected in an Irish RPGR Pedigree with X-Linked Retinitis Pigmentosa. |
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| Authors: | Kopčić E; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland., Whelan L; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland., Shortall C; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland., Ridgeway AR; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland., Finnegan LK; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland., Dockery A; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland., Millington-Ward S; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland., Duignan E; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin 2, D02 XK51 Dublin, Ireland.; The Research Foundation, Royal Victoria Eye and Ear Hospital, Dublin 2, D02 XK51 Dublin, Ireland., Kenna PF; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.; Department of Ophthalmology, Royal Victoria Eye and Ear Hospital, Dublin 2, D02 XK51 Dublin, Ireland.; The Research Foundation, Royal Victoria Eye and Ear Hospital, Dublin 2, D02 XK51 Dublin, Ireland., Farrar GJ; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland., Chadderton N; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland. |
| Source: | Genes [Genes (Basel)] 2026 Jun 21; Vol. 17 (6). Date of Electronic Publication: 2026 Jun 21. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2073-4425 |
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| DOI: | 10.3390/genes17060715 |
