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Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.

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Title: Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.
Authors: Gregory MR; Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA., Liaqat K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA., Treat K; Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA., Haider KM; Department of Ophthalmology, Indiana University School of Medicine, Indianapolis, Indiana, USA., Vetrini F; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA., Conboy E; Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Source: Case reports in genetics [Case Rep Genet] 2025 May 27; Vol. 2025, pp. 3466358. Date of Electronic Publication: 2025 May 27 (Print Publication: 2025).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101583302 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6544 (Print) Linking ISSN: 20906552 NLM ISO Abbreviation: Case Rep Genet Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.
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  Data: <searchLink fieldCode="AU" term="%22Gregory+MR%22">Gregory MR</searchLink>; Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Liaqat+K%22">Liaqat K</searchLink>; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Treat+K%22">Treat K</searchLink>; Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Haider+KM%22">Haider KM</searchLink>; Department of Ophthalmology, Indiana University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Vetrini+F%22">Vetrini F</searchLink>; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA.<br /><searchLink fieldCode="AU" term="%22Conboy+E%22">Conboy E</searchLink>; Indiana University School of Medicine, Riley Hospital for Children, Indianapolis, Indiana, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.; Undiagnosed Rare Disease Clinic, Indiana University School of Medicine, Indianapolis, Indiana, USA.
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  Data: <searchLink fieldCode="JN" term="%22101583302%22">Case reports in genetics</searchLink> [Case Rep Genet] 2025 May 27; Vol. 2025, pp. 3466358. <i>Date of Electronic Publication: </i>2025 May 27 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101583302 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2090-6544 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220906552%22">20906552 </searchLink><i>NLM ISO Abbreviation: </i>Case Rep Genet <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1155/crig/3466358
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      – TitleFull: Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.
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              Text: 2025 May 27
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