Identification of a novel germline N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis.
作者信息
Forte Giovanna, Grossi Valentina, Cariola Filomena, Buonadonna Antonia Lucia, Sanese Paola, De Marco Katia, Fasano Candida, Lepore Signorile Martina, Disciglio Vittoria, Simone Cristiano
机构信息
Medical Genetics, National Institute of Gastroenterology IRCCS "S. de Bellis" Research Hospital, Castellana Grotte, Bari 70013, Italy.
Medical Genetics, Department of Precision and Regenerative Medicine and Jonic Area (DiMePRe-J), University of Bari Aldo Moro, Bari 70124, Italy.
出版信息
Genes Dis. 2023 Sep 7;11(6):101078. doi: 10.1016/j.gendis.2023.101078. eCollection 2024 Nov.
Abstract
摘要
Zotero 插件