@misc{indiciae9f96d02f1db1, title = {Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity.}, author = {Nistala, H. and Dronzek, J. and Gonzaga-Jauregui, C. and Man Chim, S. and Rajamani, S. and Nuwayhid, S. and Delgado, D. and Burke, E. and Karaca, E. and Franklin, M. C. and Sarangapani, P. and Podgorski, M. and Tang, Y. and Dominguez, M. G. and Withers, M. and Deckelbaum, R. A. and Scheonherr, C. J. and Gahl, W. A. and Malicdan, M. C. and Zambrowicz, B. and Gale, N. W. and Gibbs, R. A. and Chung, W. K. and Lupski, J. R. and Economides, A. N.}, year = {2020}, doi = {10.1101/2020.03.02.973909}, url = {https://www.biorxiv.org/content/10.1101/2020.03.02.973909v1}, note = {Source identifier: 10.1101/2020.03.02.973909} }