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Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants.

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Title: Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants.
Authors: Souter V; Natera, Inc., Austin, Texas, USA., Johnson L; Natera, Inc., Austin, Texas, USA., Becraft E; Natera, Inc., Austin, Texas, USA., Cantu-Weinstein A; Natera, Inc., Austin, Texas, USA., Tabriziani H; Natera, Inc., Austin, Texas, USA., Benn P; UCONN Health, Farmington, Connecticut, USA., Kashtan CE; University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Source: Journal of genetic counseling [J Genet Couns] 2025 Jun; Vol. 34 (3), pp. e70045.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
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  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
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AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants.
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  Data: <searchLink fieldCode="AU" term="%22Souter+V%22">Souter V</searchLink>; Natera, Inc., Austin, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Johnson+L%22">Johnson L</searchLink>; Natera, Inc., Austin, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Becraft+E%22">Becraft E</searchLink>; Natera, Inc., Austin, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Cantu-Weinstein+A%22">Cantu-Weinstein A</searchLink>; Natera, Inc., Austin, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Tabriziani+H%22">Tabriziani H</searchLink>; Natera, Inc., Austin, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Benn+P%22">Benn P</searchLink>; UCONN Health, Farmington, Connecticut, USA.<br /><searchLink fieldCode="AU" term="%22Kashtan+CE%22">Kashtan CE</searchLink>; University of Minnesota Medical School, Minneapolis, Minnesota, USA.
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  Data: <searchLink fieldCode="JN" term="%229206865%22">Journal of genetic counseling</searchLink> [J Genet Couns] 2025 Jun; Vol. 34 (3), pp. e70045.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley%22">Wiley </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9206865 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-3599 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597700%22">10597700 </searchLink><i>NLM ISO Abbreviation: </i>J Genet Couns <i>Subsets: </i>MEDLINE; In Process
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      – Type: doi
        Value: 10.1002/jgc4.70045
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      – Code: eng
        Text: English
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        StartPage: e70045
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      – TitleFull: Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants.
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            NameFull: Souter V
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            NameFull: Johnson L
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            NameFull: Cantu-Weinstein A
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            NameFull: Tabriziani H
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            NameFull: Benn P
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            NameFull: Kashtan CE
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            – D: 01
              M: 06
              Text: 2025 Jun
              Type: published
              Y: 2025
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              Value: 1573-3599
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              Value: 34
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              Value: 3
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            – TitleFull: Journal of genetic counseling
              Type: main
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