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Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.

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Title: Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
Authors: Wedge, Eileen1,2,3, eileen.donohue.wedge@regionh.dk, Rasmussen, Andreas Ørslev4, Borgwardt, Line4, Cowland, Jack Bernard1, Grønbæk, Kirsten2,3,5, Issa, Issa Ismail2,3, Friis, Lone Smidstrup2,5, Andersen, Mette Klarskov1, Hvidbjerg, Marie Skov6, Jelsig, Anne Marie1
Source: American Journal of Medical Genetics. Part A; Apr2026, Vol. 200 Issue 4, p959-965, 7p
Database: Applied Science & Technology Source
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Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 194050764
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
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  Data: <searchLink fieldCode="AU" term="%22Wedge%2C+Eileen%22">Wedge, Eileen</searchLink><relatesTo>1,2,3</relatesTo>, <i>eileen.donohue.wedge@regionh.dk</i><br /><searchLink fieldCode="AU" term="%22Rasmussen%2C+Andreas+Ørslev%22">Rasmussen, Andreas Ørslev</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AU" term="%22Borgwardt%2C+Line%22">Borgwardt, Line</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AU" term="%22Cowland%2C+Jack+Bernard%22">Cowland, Jack Bernard</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Grønbæk%2C+Kirsten%22">Grønbæk, Kirsten</searchLink><relatesTo>2,3,5</relatesTo><br /><searchLink fieldCode="AU" term="%22Issa%2C+Issa+Ismail%22">Issa, Issa Ismail</searchLink><relatesTo>2,3</relatesTo><br /><searchLink fieldCode="AU" term="%22Friis%2C+Lone+Smidstrup%22">Friis, Lone Smidstrup</searchLink><relatesTo>2,5</relatesTo><br /><searchLink fieldCode="AU" term="%22Andersen%2C+Mette+Klarskov%22">Andersen, Mette Klarskov</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Hvidbjerg%2C+Marie+Skov%22">Hvidbjerg, Marie Skov</searchLink><relatesTo>6</relatesTo><br /><searchLink fieldCode="AU" term="%22Jelsig%2C+Anne+Marie%22">Jelsig, Anne Marie</searchLink><relatesTo>1</relatesTo>
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  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Apr2026, Vol. 200 Issue 4, p959-965, 7p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=194050764
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      – Type: doi
        Value: 10.1002/ajmga.70015
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      – Code: eng
        Text: English
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        PageCount: 7
        StartPage: 959
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      – TitleFull: Case Series: Clinical Significance of Heterozygous Pathogenic RTEL1 Variants Identified via Routine Clinical Genetic Diagnostics.
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            NameFull: Wedge, Eileen
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            NameFull: Cowland, Jack Bernard
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            NameFull: Grønbæk, Kirsten
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            – D: 01
              M: 04
              Text: Apr2026
              Type: published
              Y: 2026
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              Value: 200
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            – TitleFull: American Journal of Medical Genetics. Part A
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