Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
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| Title: | Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants. |
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| Authors: | Fortuno C; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Lee K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Olivier M; International Agency for Research on Cancer, Lyon, France., Pesaran T; Ambry Genetics, Aliso Viejo, California, USA., Mai PL; Magee-Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., de Andrade KC; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA., Attardi LD; Departments of Radiation-Oncology and Genetics, Stanford University, Stanford, California, USA., Crowley S; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Evans DG; University of Manchester, Manchester, UK., Feng BJ; University of Utah, Salt Lake City, Utah, USA., Foreman AKM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA., Huether R; Tempus, Chicago, Illinois, USA., James PA; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Australia., McGoldrick K; Ambry Genetics, Aliso Viejo, California, USA., Mester J; GeneDx, Gaithersburg, Maryland, USA., Seifert BA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Slavin TP; City of Hope, Duarte, California, USA., Witkowski L; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Maryland, USA., Zhang L; Memorial Sloan Kettering Cancer Center, New York, New York, USA., Plon SE; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA., Spurdle AB; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA. |
| Corporate Authors: | ClinGen TP53 Variant Curation Expert Panel |
| Source: | Human mutation [Hum Mutat] 2021 Mar; Vol. 42 (3), pp. 223-236. Date of Electronic Publication: 2020 Dec 25. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| 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 |
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| DOI: | 10.1002/humu.24152 |
