Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
Warren van Loggerenberg, Shahin Sowlati‐Hashjin, Jochen Weile, Rayna Hamilton, Aditya Chawla, Dayag Sheykhkarimli, Marinella Gebbia, Nishka Kishore, Laure Frésard, Sami Mustajoki, Elena Pischik, Elena Di Pierro, Michela Barbaro, Ylva Flodérus, Caroline Schmitt, , Frederick P. Roth
This study systematically tests HMBS missense variants to determine their functional impact and distinguish pathogenic from benign variants.
The American Journal of Human Genetics · Sep 19, 2023Peer-reviewedMolecular Biology