Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature.
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| Title: | Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature. |
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| Authors: | Manav Yiğit, Zehra1 (AUTHOR) zehra.manav@adu.edu.tr, Dikbaş, Osman Semih1 (AUTHOR), Erkan, Erol2 (AUTHOR), Vural, Gözde Şahin3 (AUTHOR), Bozkurt, Gökay1 (AUTHOR) |
| Source: | Ophthalmic Genetics. Oct2025, Vol. 46 Issue 5, p463-467. 5p. |
| 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: 188157247 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=188157247 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1080/13816810.2025.2485222 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 463 Titles: – TitleFull: Intellectual disability and retinitis pigmentosa due to a homozygous null SCAPER variant: a clinical and genetic insight with review of the literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Manav Yiğit, Zehra – PersonEntity: Name: NameFull: Dikbaş, Osman Semih – PersonEntity: Name: NameFull: Erkan, Erol – PersonEntity: Name: NameFull: Vural, Gözde Şahin – PersonEntity: Name: NameFull: Bozkurt, Gökay IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: Oct2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 13816810 Numbering: – Type: volume Value: 46 – Type: issue Value: 5 Titles: – TitleFull: Ophthalmic Genetics Type: main |
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