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Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome.

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Title: Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome.
Authors: Li JM; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Tavares E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Duncan JL; Department of Ophthalmology, University of California, San Francisco, California, USA., Vincent A; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Héon E; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
Source: Ophthalmic genetics [Ophthalmic Genet] 2025 Aug; Vol. 46 (4), pp. 406-412. Date of Electronic Publication: 2024 Dec 01.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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An: 39618083
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Li+JM%22">Li JM</searchLink>; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Tavares+E%22">Tavares E</searchLink>; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Duncan+JL%22">Duncan JL</searchLink>; Department of Ophthalmology, University of California, San Francisco, California, USA.<br /><searchLink fieldCode="AU" term="%22Vincent+A%22">Vincent A</searchLink>; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Héon+E%22">Héon E</searchLink>; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
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  Data: <searchLink fieldCode="JN" term="%229436057%22">Ophthalmic genetics</searchLink> [Ophthalmic Genet] 2025 Aug; Vol. 46 (4), pp. 406-412. <i>Date of Electronic Publication: </i>2024 Dec 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Informa+Healthcare%22">Informa Healthcare </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9436057 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-5094 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213816810%22">13816810 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmic Genet <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1080/13816810.2024.2434039
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      – Code: eng
        Text: English
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      – TitleFull: Novel BBS1 deletion and BBS9 nonsense pathogenic variant in Bardet-Biedl syndrome.
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            NameFull: Li JM
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            NameFull: Tavares E
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            NameFull: Duncan JL
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            – D: 01
              M: 08
              Text: 2025 Aug
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              Value: 46
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              Value: 4
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            – TitleFull: Ophthalmic genetics
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