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Paper Details

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Am J Hum Genet
57
2018
CDKN1C, DNA Polymerase Epsilon, DNA replication genes, IMAGe Syndrome, IMAGe syndrome, IUGR, Immunodeficiency, POLE, POLE1, POLE1-deficient, Pol, Pol catalytic subunit, adrenal dysfunction, adrenal hypoplasia congenita, c.1686+32C, deficiency of Pol, genitourinary anomalies, growth restriction, immune dysfunction, immunodeficiency, intrauterine growth restriction, intronic variant, leading-strand DNA polymerase, lymphocyte, lymphocyte deficiency, metaphyseal dysplasia, polymerase epsilon
Author NameAffiliation
Clare V LoganMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
David A D ParryMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
Javier SantoyoEdinburgh Genomics Clinical Division, University of Edinburgh, The Roslin Institute
Inês BarrosoWellcome Sanger Institute
Chad D HuffMD Anderson Cancer Center
Sylvie LangloisThe University of British Columbia
Michael B BoberNemours-Alfred I. duPont Hospital for Children
Robert K SempleUniversity of Cambridge, University of Edinburgh
Simon J BoultonThe Francis Crick Institute
Andrew P JacksonMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
Andrew P JacksonMRC Institute of Genetics and Molecular Medicine, University of Edinburgh
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