Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.
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| Title: | Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability. |
|---|---|
| Authors: | Vuillaume, M.-L.1,2, Jeanne, M.1,2, Laumonnier, F.1,2, Toutain, A.1,2, Ung, D.-C.2, Quinquis, D.3, Besnard, T.3, Cogné, B.3,4, Bézieau, S.3,4, Redon, R.4, Boland, A.5, Deleuze, J.-F.5 |
| Source: | Clinica Chimica Acta. Oct2018, Vol. 485, p218-223. 6p. |
| Database: | Academic Search Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 131402364 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=131402364 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.cca.2018.06.048 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 218 Titles: – TitleFull: Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Vuillaume, M.-L. – PersonEntity: Name: NameFull: Jeanne, M. – PersonEntity: Name: NameFull: Laumonnier, F. – PersonEntity: Name: NameFull: Toutain, A. – PersonEntity: Name: NameFull: Ung, D.-C. – PersonEntity: Name: NameFull: Quinquis, D. – PersonEntity: Name: NameFull: Besnard, T. – PersonEntity: Name: NameFull: Cogné, B. – PersonEntity: Name: NameFull: Bézieau, S. – PersonEntity: Name: NameFull: Redon, R. – PersonEntity: Name: NameFull: Boland, A. – PersonEntity: Name: NameFull: Deleuze, J.-F. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: Oct2018 Type: published Y: 2018 Identifiers: – Type: issn-print Value: 00098981 Numbering: – Type: volume Value: 485 Titles: – TitleFull: Clinica Chimica Acta Type: main |
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