Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
Titel:
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
Auteur:
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.