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When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.
Basel-Salmon L, Ruhrman-Shahar N, Orenstein N, Goldberg Y, Gonzaga-Jauregui C, Shuldiner AR, Sukenik-Halevy R, Maya I, Magal N, Hagari O, Azulay N, Lidzbarsky GA, Bazak L. Basel-Salmon L, et al. Among authors: lidzbarsky ga. Genet Med. 2021 Jan;23(1):215-221. doi: 10.1038/s41436-020-00938-5. Epub 2020 Aug 17. Genet Med. 2021. PMID: 32801363 Free article.
Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
Goldberg Y, Laitman Y, Ben David M, Bazak L, Lidzbarsky G, Salmon LB, Shkedi-Rafid S, Barshack I, Avivi C, Darawshe M, Shomron N, Bruchim R, Vinkler C, Yannoukakos D, Fostira F, Bernstein-Molho R, Friedman E. Goldberg Y, et al. Hum Mutat. 2021 May;42(5):592-599. doi: 10.1002/humu.24189. Epub 2021 Mar 3. Hum Mutat. 2021. PMID: 33600035
21 results