Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration.
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| Title: | Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration. |
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| Authors: | Borchert, Grace A.1,2 (AUTHOR), Shanks, Morag E.2,3 (AUTHOR), Whitfield, Jennifer2,3 (AUTHOR), Clouston, Penny2,3 (AUTHOR), Raji, Shabnam1,2 (AUTHOR), Sperring, Sian2 (AUTHOR), Thompson, Jennifer A.4 (AUTHOR), Xue, Kanmin1,2 (AUTHOR), De Silva, Samantha R.1,2 (AUTHOR), Downes, Susan M.1,2 (AUTHOR), MacLaren, Robert E.1,2 (AUTHOR), Cehajic-Kapetanovic, Jasmina1,2 (AUTHOR) enquiries@eye.ox.ac.uk |
| Source: | Ophthalmic Genetics. Dec2024, Vol. 45 Issue 6, p633-639. 7p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 181133858 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=181133858 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1080/13816810.2024.2369271 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 633 Titles: – TitleFull: Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Borchert, Grace A. – PersonEntity: Name: NameFull: Shanks, Morag E. – PersonEntity: Name: NameFull: Whitfield, Jennifer – PersonEntity: Name: NameFull: Clouston, Penny – PersonEntity: Name: NameFull: Raji, Shabnam – PersonEntity: Name: NameFull: Sperring, Sian – PersonEntity: Name: NameFull: Thompson, Jennifer A. – PersonEntity: Name: NameFull: Xue, Kanmin – PersonEntity: Name: NameFull: De Silva, Samantha R. – PersonEntity: Name: NameFull: Downes, Susan M. – PersonEntity: Name: NameFull: MacLaren, Robert E. – PersonEntity: Name: NameFull: Cehajic-Kapetanovic, Jasmina IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: Dec2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 13816810 Numbering: – Type: volume Value: 45 – Type: issue Value: 6 Titles: – TitleFull: Ophthalmic Genetics Type: main |
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