Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review.
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| Title: | Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review. |
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| Authors: | Salmaninejad, Arash1,2,3 (AUTHOR), Seyedtaghia, Mohammad Reza4 (AUTHOR), Bereshneh, Ali Hosseini5 (AUTHOR), Azizi, Nasrin3 (AUTHOR), Bayat, Reza6 (AUTHOR), Esnaashari, Somaye3 (AUTHOR), Aminzadeh, Vahid6 (AUTHOR), Koohmanaee, Shahin6 (AUTHOR), Savad, Shahram7 (AUTHOR), Mojarrad, Majid8 (AUTHOR), Dalili, Setila6 (AUTHOR) setiladalili1346@yahoo.com |
| Source: | Molecular Genetics & Genomic Medicine. Mar2026, Vol. 14 Issue 3, p1-12. 12p. |
| 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: 192505994 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=192505994 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mgg3.70206 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 12 StartPage: 1 Titles: – TitleFull: Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Salmaninejad, Arash – PersonEntity: Name: NameFull: Seyedtaghia, Mohammad Reza – PersonEntity: Name: NameFull: Bereshneh, Ali Hosseini – PersonEntity: Name: NameFull: Azizi, Nasrin – PersonEntity: Name: NameFull: Bayat, Reza – PersonEntity: Name: NameFull: Esnaashari, Somaye – PersonEntity: Name: NameFull: Aminzadeh, Vahid – PersonEntity: Name: NameFull: Koohmanaee, Shahin – PersonEntity: Name: NameFull: Savad, Shahram – PersonEntity: Name: NameFull: Mojarrad, Majid – PersonEntity: Name: NameFull: Dalili, Setila IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: Mar2026 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 23249269 Numbering: – Type: volume Value: 14 – Type: issue Value: 3 Titles: – TitleFull: Molecular Genetics & Genomic Medicine Type: main |
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