Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
系统性地检测人类HMBS错义变异，以揭示其机制和致病变异
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.08.012
van Loggerenberg, Warren; Sowlati-Hashjin, Shahin; Weile, Jochen; Hamilton, Rayna; Chawla, Aditya; Sheykhkarimli, Dayag; Gebbia, Marinella; Kishore, Nishka; Frésard, Laure; Mustajoki, Sami; Pischik, Elena; Di Pierro, Elena; Barbaro, Michela; Floderus, Ylva; Schmitt, Caroline; Gouya, Laurent; Colavin, Alexandre; Nussbaum, Robert; Friesema, Edith C H; Kauppinen, Raili; To-Figueras, Jordi; Aarsand, Aasne K; Desnick, Robert J; Garton, Michael; Roth, Frederick P
