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dc.contributor.authorLogan, Clare Ven
dc.contributor.authorMurray, Jennie Een
dc.contributor.authorParry, David Aen
dc.contributor.authorRobertson, Andreaen
dc.contributor.authorBellelli, Robertoen
dc.contributor.authorTarnauskaitė, Žygimantėen
dc.contributor.authorChallis, Rachelen
dc.contributor.authorCleal, Louiseen
dc.contributor.authorBorel, Valerieen
dc.contributor.authorFluteau, Adelineen
dc.contributor.authorSantoyo-Lopez, Javieren
dc.contributor.authorSGP Consortium,en
dc.contributor.authorAitman, Timen
dc.contributor.authorBarroso, Inesen
dc.contributor.authorBasel, Donalden
dc.contributor.authorBicknell, Louise Sen
dc.contributor.authorGoel, Himanshuen
dc.contributor.authorHu, Haoen
dc.contributor.authorHuff, Chaden
dc.contributor.authorHutchison, Micheleen
dc.contributor.authorJoyce, Carolineen
dc.contributor.authorKnox, Rachelen
dc.contributor.authorLacroix, Amy Een
dc.contributor.authorLanglois, Sylvieen
dc.contributor.authorMcCandless, Shawnen
dc.contributor.authorMcCarrier, Julieen
dc.contributor.authorMetcalfe, Kay Aen
dc.contributor.authorMorrissey, Roseen
dc.contributor.authorMurphy, Nualaen
dc.contributor.authorNetchine, Irèneen
dc.contributor.authorO'Connell, Susan Men
dc.contributor.authorOlney, Ann Haskinsen
dc.contributor.authorParia, Nandinaen
dc.contributor.authorRosenfeld, Jill Aen
dc.contributor.authorSherlock, Marken
dc.contributor.authorSyverson, Erinen
dc.contributor.authorWhite, Perrin Cen
dc.contributor.authorWise, Carolen
dc.contributor.authorYu, Yaoen
dc.contributor.authorZacharin, Margareten
dc.contributor.authorBanerjee, Indraneelen
dc.contributor.authorReijns, Martinen
dc.contributor.authorBober, Michael Ben
dc.contributor.authorSemple, Robert Ken
dc.contributor.authorBoulton, Simon Jen
dc.contributor.authorRios, Jonathan Jen
dc.contributor.authorJackson, Andrew Pen
dc.date.accessioned2019-07-18T23:30:43Z
dc.date.available2019-07-18T23:30:43Z
dc.date.issued2018-12en
dc.identifier.issn0002-9297
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/294780
dc.format.mediumPrint-Electronicen
dc.languageengen
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectSGP Consortiumen
dc.subjectHumansen
dc.subjectOsteochondrodysplasiasen
dc.subjectUrogenital Abnormalitiesen
dc.subjectFetal Growth Retardationen
dc.subjectAdrenal Insufficiencyen
dc.subjectDNA Polymerase IIen
dc.subjectDNA Replicationen
dc.subjectPhenotypeen
dc.subjectMutationen
dc.subjectAllelesen
dc.subjectAdolescenten
dc.subjectAdulten
dc.subjectMiddle Ageden
dc.subjectChilden
dc.subjectChild, Preschoolen
dc.subjectInfanten
dc.subjectFemaleen
dc.subjectMaleen
dc.subjectCyclin-Dependent Kinase Inhibitor p57en
dc.subjectYoung Adulten
dc.subjectPoly-ADP-Ribose Binding Proteinsen
dc.titleDNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.en
dc.typeArticle
prism.endingPage1044
prism.issueIdentifier6en
prism.publicationDate2018en
prism.publicationNameAmerican journal of human geneticsen
prism.startingPage1038
prism.volume103en
dc.identifier.doi10.17863/CAM.41877
dcterms.dateAccepted2018-10-26en
rioxxterms.versionofrecord10.1016/j.ajhg.2018.10.024en
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2018-12en
dc.contributor.orcidParry, David A [0000-0003-0376-7736]
dc.contributor.orcidBellelli, Roberto [0000-0002-2062-7113]
dc.contributor.orcidBarroso, Ines [0000-0001-5800-4520]
dc.contributor.orcidJoyce, Caroline [0000-0001-7231-8331]
dc.contributor.orcidReijns, Martin [0000-0002-5048-2752]
dc.contributor.orcidJackson, Andrew P [0000-0002-8739-2646]
dc.identifier.eissn1537-6605
rioxxterms.typeJournal Article/Reviewen


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Attribution-NonCommercial-NoDerivatives 4.0 International
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