학술논문
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
Document Type
Article
Author
van Loggerenberg, W.; Weile, J.; Chawla, A.; Sheykhkarimli, D.; Gebbia, M.; Kishore, N.; Roth, F.P.; Sowlati-Hashjin, S.; Garton, M.; Hamilton, R.; Frésard, L.; Colavin, A.; Nussbaum, R.; Mustajoki, S.; Pischik, E.; Kauppinen, R.; Di Pierro, E.; Barbaro, M.; Floderus, Y.; Schmitt, C.; Gouya, L.; Friesema, E.C.H.; To-Figueras, J.; Aarsand, A.K.; Desnick, R.J.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 5 October 2023, 110(10):1769-1786)
Subject
Language
English
ISSN
15376605
00029297
00029297