Variability in pathogenicity prediction programs: impact on clinical diagnostics.
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| Title: | Variability in pathogenicity prediction programs: impact on clinical diagnostics. |
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| Authors: | Walters-Sen LC; Center for Human Genetics, Inc. Cambridge, Massachusetts., Hashimoto S; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio., Thrush DL; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pediatrics, The Ohio State University College of Medicine Columbus, Ohio., Reshmi S; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio., Gastier-Foster JM; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pediatrics, The Ohio State University College of Medicine Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio., Astbury C; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio., Pyatt RE; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio. |
| Source: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2015 Mar; Vol. 3 (2), pp. 99-110. Date of Electronic Publication: 2014 Dec 03. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2324-9269 (Print) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 25802880 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Variability in pathogenicity prediction programs: impact on clinical diagnostics. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Walters-Sen+LC%22">Walters-Sen LC</searchLink>; Center for Human Genetics, Inc. Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Hashimoto+S%22">Hashimoto S</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio.<br /><searchLink fieldCode="AU" term="%22Thrush+DL%22">Thrush DL</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pediatrics, The Ohio State University College of Medicine Columbus, Ohio.<br /><searchLink fieldCode="AU" term="%22Reshmi+S%22">Reshmi S</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio.<br /><searchLink fieldCode="AU" term="%22Gastier-Foster+JM%22">Gastier-Foster JM</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pediatrics, The Ohio State University College of Medicine Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio.<br /><searchLink fieldCode="AU" term="%22Astbury+C%22">Astbury C</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio.<br /><searchLink fieldCode="AU" term="%22Pyatt+RE%22">Pyatt RE</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology, The Ohio State University College of Medicine Columbus, Ohio. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101603758%22">Molecular genetics & genomic medicine</searchLink> [Mol Genet Genomic Med] 2015 Mar; Vol. 3 (2), pp. 99-110. <i>Date of Electronic Publication: </i>2014 Dec 03. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22John+Wiley+%26+Sons%22">John Wiley & Sons </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101603758 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2324-9269 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223249269%22">23249269 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Genomic Med <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=25802880 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mgg3.116 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 99 Titles: – TitleFull: Variability in pathogenicity prediction programs: impact on clinical diagnostics. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Walters-Sen LC – PersonEntity: Name: NameFull: Hashimoto S – PersonEntity: Name: NameFull: Thrush DL – PersonEntity: Name: NameFull: Reshmi S – PersonEntity: Name: NameFull: Gastier-Foster JM – PersonEntity: Name: NameFull: Astbury C – PersonEntity: Name: NameFull: Pyatt RE IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2015 Mar Type: published Y: 2015 Identifiers: – Type: issn-print Value: 2324-9269 Numbering: – Type: volume Value: 3 – Type: issue Value: 2 Titles: – TitleFull: Molecular genetics & genomic medicine Type: main |
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