The MECP2 variant c. 925C>T (p. Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.
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| Title: | The MECP2 variant c. 925C>T (p. Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. |
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| Authors: | Schönewolf‐Greulich, B.1,2, Tejada, M.‐I.3, Stephens, K.4, Hadzsiev, K.5, Gauthier, J.6, Brøndum‐Nielsen, K.7, Pfundt, R.8, Ravn, K.7, Maortua, H.3, Gener, B.3, Martínez‐Bouzas, C.3, Piton, A.9,10, Rouleau, G.11, Clayton‐Smith, J.4, Kleefstra, T.8, Bisgaard, A.‐M.1, Tümer, Z.2 |
| Source: | Clinical Genetics. Jun2016, Vol. 89 Issue 6, p733-738. 7p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 115421143 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.12769 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 733 Titles: – TitleFull: The MECP2 variant c. 925C>T (p. Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Schönewolf‐Greulich, B. – PersonEntity: Name: NameFull: Tejada, M.‐I. – PersonEntity: Name: NameFull: Stephens, K. – PersonEntity: Name: NameFull: Hadzsiev, K. – PersonEntity: Name: NameFull: Gauthier, J. – PersonEntity: Name: NameFull: Brøndum‐Nielsen, K. – PersonEntity: Name: NameFull: Pfundt, R. – PersonEntity: Name: NameFull: Ravn, K. – PersonEntity: Name: NameFull: Maortua, H. – PersonEntity: Name: NameFull: Gener, B. – PersonEntity: Name: NameFull: Martínez‐Bouzas, C. – PersonEntity: Name: NameFull: Piton, A. – PersonEntity: Name: NameFull: Rouleau, G. – PersonEntity: Name: NameFull: Clayton‐Smith, J. – PersonEntity: Name: NameFull: Kleefstra, T. – PersonEntity: Name: NameFull: Bisgaard, A.‐M. – PersonEntity: Name: NameFull: Tümer, Z. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: Jun2016 Type: published Y: 2016 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 89 – Type: issue Value: 6 Titles: – TitleFull: Clinical Genetics Type: main |
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