@misc{indiciaed8d22c656033, title = {Discovery and functional analysis of a novel ALPK1 variant causing ROSAH syndrome}, author = {Snelling, T. and Olory-Garnotel, L. and Jeru, I. and Tusseau, M. and Cuisset, L. and Perlat, A. and Minard, G. and Benquey, T. and Maucourant, Y. and Wood, N. T. and Cohen, P. and Ziegler, A.}, year = {2024}, doi = {10.1101/2024.09.13.612837}, url = {https://www.biorxiv.org/content/10.1101/2024.09.13.612837v1}, note = {Source identifier: 10.1101/2024.09.13.612837} }