Rare penetrant mutations confer severe risk of common diseases
罕见的高外显率突变会带来罹患常见疾病的严重风险。
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doi:10.1101/2023.05.01.23289356
Fiziev, Petko; McRae, Jeremy; Ulirsch, Jacob C; Dron, Jacqueline S; Hamp, Tobias; Yang, Yanshen; Wainschtein, Pierrick; Ni, Zijian; Schraiber, Joshua G; Gao, Hong; Cable, Dylan; Field, Yair; Aguet, Francois; Fasnacht, Marc; Metwally, Ahmed; Rogers, Jeffrey; Marques-Bonet, Tomas; Rehm, Heidi L; O'Donnell-Luria, Anne; Khera, Amit V; Kai-How Farh, Kyle