Rare penetrant mutations confer severe risk of common diseases

Summary

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Authors: Petko P. Fiziev, Jeremy McRae, Jacob C. Ulirsch, Jacqueline S. Dron, Tobias Hamp, Yanshen Yang, Pierrick Wainschtein, Zijian Ni, Joshua G. Schraiber, Hong Gao, Dylan Cable, Yair Field, Francois Aguet, Marc Fasnacht, Ahmed Metwally, Jeffrey Rogers, Tomas Marques-Bonet, Heidi L. Rehm, Anne O'Donnell-Luria, Amit V. Khera, Kyle Kai-How Farh

Journal title: Science

Journal number: 380

Journal publisher: American Association for the Advancement of Science

Published year: 2024

DOI identifier: 10.1126/science.abo1131

ISSN: 0036-8075