A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
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| Title: | A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. |
|---|---|
| Authors: | Dunn, P.1,2, Prigatano, G. P.3, Szelinger, S.1,2, Roth, J.1,2, Siniard, A. L.1,2, Claasen, A. M.1,2, Richholt, R. F.1,2, De Both, M.1,2, Corneveaux, J. J.1,2, Moskowitz, A. M.1,2, Balak, C.1,2, Piras, I. S.1,2, Russell, M.1,2, Courtright, A. L.1,2, Belnap, N.1,2, Rangasamy, S.1,2, Ramsey, K.1,2, Opitz, J. M.4, Craig, D. W.1,2, Narayanan, V.1,2 |
| Source: | American Journal of Medical Genetics. Part A; Mar2017, Vol. 173 Issue 3, p611-617, 7p |
| Database: | Applied Science & Technology Source |
| FullText | Text: Availability: 0 |
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| Header | DbId: aci DbLabel: Applied Science & Technology Source An: 121348571 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=aci&AN=121348571 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.38069 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 611 Titles: – TitleFull: A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Dunn, P. – PersonEntity: Name: NameFull: Prigatano, G. P. – PersonEntity: Name: NameFull: Szelinger, S. – PersonEntity: Name: NameFull: Roth, J. – PersonEntity: Name: NameFull: Siniard, A. L. – PersonEntity: Name: NameFull: Claasen, A. M. – PersonEntity: Name: NameFull: Richholt, R. F. – PersonEntity: Name: NameFull: De Both, M. – PersonEntity: Name: NameFull: Corneveaux, J. J. – PersonEntity: Name: NameFull: Moskowitz, A. M. – PersonEntity: Name: NameFull: Balak, C. – PersonEntity: Name: NameFull: Piras, I. S. – PersonEntity: Name: NameFull: Russell, M. – PersonEntity: Name: NameFull: Courtright, A. L. – PersonEntity: Name: NameFull: Belnap, N. – PersonEntity: Name: NameFull: Rangasamy, S. – PersonEntity: Name: NameFull: Ramsey, K. – PersonEntity: Name: NameFull: Opitz, J. M. – PersonEntity: Name: NameFull: Craig, D. W. – PersonEntity: Name: NameFull: Narayanan, V. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: Mar2017 Type: published Y: 2017 Identifiers: – Type: issn-print Value: 15524825 Numbering: – Type: volume Value: 173 – Type: issue Value: 3 Titles: – TitleFull: American Journal of Medical Genetics. Part A Type: main |
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