@misc{indiciae6315b4fb8d79, title = {Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation.}, author = {Jurgens, J. and Chen, S. and Sobreira, N. and Robbins, S. and Franca Anzmann, A. and Dastgheyb, R. and Khuder, S. S. and Hoover-Fong, J. and Woods, C. and Collins, F. and Christodoulou, J. and Lopes Yamamoto, G. and Romeo Bertola, D. and Baratela, W. A. R. and Curie, S. D. and Haughey, N. and Cornell, R. B. and Valle, D.}, year = {2019}, doi = {10.1101/2019.12.19.882191}, url = {https://www.biorxiv.org/content/10.1101/2019.12.19.882191v1}, note = {Source identifier: 10.1101/2019.12.19.882191} }