Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

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Title: Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
Authors: Goldberg Y; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Laitman Y; Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel., Ben David M; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Radiation Oncology Unit, Assuta Medical Center, Tel-Aviv, Israel., Bazak L; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel., Lidzbarsky G; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel., Salmon LB; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Shkedi-Rafid S; Department of Genetics, Hadassah-Hebrew University Hospital, Jerusalem, Israel.; Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Barshack I; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Pathology Institute, Chaim Sheba Medical Center, Tel-Hashomer, Israel., Avivi C; Pathology Institute, Chaim Sheba Medical Center, Tel-Hashomer, Israel., Darawshe M; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Shomron N; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Bruchim R; Naot Clinic, Maccabi Health Care Organization, Tel-Aviv, Israel., Vinkler C; Onco Genetis Unit, Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel., Yannoukakos D; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Fostira F; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Bernstein-Molho R; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Breast Cancer Unit, Institute of Oncology, Chaim Sheba Medical Center, Tel-Hashomer, Israel., Friedman E; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Source: Human mutation [Hum Mutat] 2021 May; Vol. 42 (5), pp. 592-599. Date of Electronic Publication: 2021 Mar 03.
Publication Type: Journal Article
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1098-1004
DOI:10.1002/humu.24189