@misc{indiciaed66fbe4d30be, title = {Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation}, author = {van Loggerenberg, W. and Sowlati-Hashjin, S. and Weile, J. and Hamilton, R. and Chawla, A. and Gebbia, M. and Kishore, N. and Fresard, L. and Mustajoki, S. and Pischik, E. and Di Pierro, E. and Barbaro, M. and Floderus, Y. and Schmitt, C. and Gouya, L. and Colavin, A. and Nussbaum, R. and Friesema, E. C. H. and Kauppinen, R. and To-Figueras, J. and Aarsand, A. K. and Desnick, R. J. and Garton, M. and Roth, F. P.}, year = {2023}, doi = {10.1101/2023.02.06.527353}, url = {https://www.biorxiv.org/content/10.1101/2023.02.06.527353v1}, note = {Source identifier: 10.1101/2023.02.06.527353} }