De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.
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| Title: | De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy. |
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| Authors: | Latsko, Maeson S., Koboldt, Daniel C., Franklin, Samuel J., Hickey, Scott E., Williamson, Rachel K., Garner, Shannon, Ostendorf, Adam P., Lee, Kristy, White, Peter, Wilson, Richard K. |
| Source: | Cold Spring Harbor molecular case studies Jun2022; Vol. 8 (4). |
| Journal Info: | Publisher: Cold Spring Harbor Laboratory Press ISSN: 2373-2873 |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: EPTOC157787021 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=mdl&AN=EPTOC157787021 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1101/mcs.a006172 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1 Titles: – TitleFull: De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Latsko, Maeson S. – PersonEntity: Name: NameFull: Koboldt, Daniel C. – PersonEntity: Name: NameFull: Franklin, Samuel J. – PersonEntity: Name: NameFull: Hickey, Scott E. – PersonEntity: Name: NameFull: Williamson, Rachel K. – PersonEntity: Name: NameFull: Garner, Shannon – PersonEntity: Name: NameFull: Ostendorf, Adam P. – PersonEntity: Name: NameFull: Lee, Kristy – PersonEntity: Name: NameFull: White, Peter – PersonEntity: Name: NameFull: Wilson, Richard K. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: Jun2022 Type: published Y: 2022 Identifiers: – Type: issn-print Value: 2373-2873 Numbering: – Type: volume Value: 8 – Type: issue Value: 4 Titles: – TitleFull: Cold Spring Harbor molecular case studies Type: main |
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