Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures.
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| Title: | Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures. |
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| Authors: | Niu, Mengmeng1 (AUTHOR), Wang, Dong2 (AUTHOR) wangdong6928@163.com, Jia, Shanshan1 (AUTHOR) bbjss33@stu.xjtu.edu.cn |
| Source: | Molecular Genetics & Genomic Medicine. Mar2026, Vol. 14 Issue 3, p1-5. 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: 192505992 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Niu%2C+Mengmeng%22">Niu, Mengmeng</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wang%2C+Dong%22">Wang, Dong</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> wangdong6928@163.com</i><br /><searchLink fieldCode="AR" term="%22Jia%2C+Shanshan%22">Jia, Shanshan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> bbjss33@stu.xjtu.edu.cn</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Molecular+Genetics+%26+Genomic+Medicine%22">Molecular Genetics & Genomic Medicine</searchLink>. Mar2026, Vol. 14 Issue 3, p1-5. 5p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=192505992 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mgg3.70195 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 1 Titles: – TitleFull: Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Niu, Mengmeng – PersonEntity: Name: NameFull: Wang, Dong – PersonEntity: Name: NameFull: Jia, Shanshan 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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