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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.
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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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Kopčić+E%22">Kopčić E</searchLink>; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Whelan+L%22">Whelan L</searchLink>; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Shortall+C%22">Shortall C</searchLink>; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Ridgeway+AR%22">Ridgeway AR</searchLink>; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Finnegan+LK%22">Finnegan LK</searchLink>; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Dockery+A%22">Dockery A</searchLink>; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Millington-Ward+S%22">Millington-Ward S</searchLink>; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Duignan+E%22">Duignan E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kenna+PF%22">Kenna PF</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Farrar+GJ%22">Farrar GJ</searchLink>; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.<br /><searchLink fieldCode="AU" term="%22Chadderton+N%22">Chadderton N</searchLink>; The School of Genetics and Microbiology, Trinity College Dublin, Dublin 2, D02 VF25 Dublin, Ireland.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 Jun 21; Vol. 17 (6). <i>Date of Electronic Publication: </i>2026 Jun 21.
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              Text: 2026 Jun 21
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