TY - RPRT TI - Modelling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation. AU - Erwood, S. AU - Brewer, R. A. AU - Bily, T. M. I. AU - Maino, E. AU - Zhou, L. AU - Cohn, R. D. AU - Ivakine, E. A. PY - 2019 DO - 10.1101/801019 UR - https://www.biorxiv.org/content/10.1101/801019v1 ID - 10.1101/801019 ER -