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Paper Details

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
Am J Hum Genet
21
2022
(BER, (BER) gene MBD4, 5'-methylcytosine, AMER1, BER deficiencies, G, KRAS, MBD4, MBD4 deficiency, MBD4 variants, MBD4-deficient, MBD4-deficient polyps, SBS1, adenomatous colorectal polyposis, autosomal recessive, multi-organ tumor predisposition syndrome, colorectal adenomas, colorectal tumors, multi-tumor, multi-tumor predisposition syndrome, myeloid leukemia, polyposis and, sporadic, tumor, uveal melanoma
Author NameAffiliation
Claire PallesInstitute of Cancer and Genomic Sciences, College of Medical and Dental Science, University of Birmingham
David J AdamsWellcome Trust Sanger Institute
Jan LubinskiHereditary Cancer Center, Pomeranian Medical University
Jan LubinskiHereditary Cancer Center, Pomeranian Medical University
Jenny C TaylorOxford NIHR Biomedical Research Centre, University of Oxford
Clare TurnbullInstitute of Cancer Research
Nuria Lopez-BigasInstitute for Research in Biomedicine, The Barcelona Institute of Science and Technology
Nuria Lopez-BigasInstitute for Research in Biomedicine, The Barcelona Institute of Science and Technology
Andrea SottorivaCancer Institute, University College London
David C WedgeUniversity of Manchester
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