@misc{indiciae5e45cdf13976, title = {Somatic uniparental disomy with a rare EFL1 variant causes Shwachman-Diamond syndrome through dysregulating ribosomal protein synthesis}, author = {Lee, S. and Shin, C. H. and Hong, C. R. and Kim, J.-D. and Kim, A.-R. and Lee, J. and Kokhan, O. and Yoo, T. and Sohn, Y. B. and Kim, O.-H. and Ko, J. M. and Cho, T.-J. and Wright, N. T. and Jin, S.-W. and Kang, H. J. and Kim, H. H. and Choi, M.}, year = {2018}, doi = {10.1101/483362}, url = {https://www.biorxiv.org/content/10.1101/483362v1}, note = {Source identifier: 10.1101/483362} }