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Li D, Wang Q, Gong NN, et al. Pathogenic variants in . Sci Adv. 2021;7(20)doi: 10.1126/sciadv.abf2066.
Li, D., Wang, Q., Gong, N. N., Kurolap, A., Feldman, H. B., Boy, N., Brugger, M., Grand, K., McWalter, K., Guillen Sacoto, M. J., Wakeling, E., Hurst, J., March, M. E., Bhoj, E. J., Nowaczyk, M. J. M., Gonzaga-Jauregui, C., Mathew, M., Dava-Wala, A., Siemon, A., Bartholomew, D., Huang, Y., Lee, H., Martinez-Agosto, J. A., Schwaibold, E. M. C., Brunet, T., Choukair, D., Pais, L. S., White, S. M., Christodoulou, J., Brown, D., Lindstrom, K., Grebe, T., Tiosano, D., Kayser, M. S., Tan, T. Y., Deardorff, M. A., Song, Y., & Hakonarson, H. (2021). Pathogenic variants in . Science advances, 7(20), . https://doi.org/10.1126/sciadv.abf2066
Li, Dong, et al. "Pathogenic variants in ." Science advances vol. 7,20 (2021). doi: https://doi.org/10.1126/sciadv.abf2066
Li D, Wang Q, Gong NN, Kurolap A, Feldman HB, Boy N, Brugger M, Grand K, McWalter K, Guillen Sacoto MJ, Wakeling E, Hurst J, March ME, Bhoj EJ, Nowaczyk MJM, Gonzaga-Jauregui C, Mathew M, Dava-Wala A, Siemon A, Bartholomew D, Huang Y, Lee H, Martinez-Agosto JA, Schwaibold EMC, Brunet T, Choukair D, Pais LS, White SM, Christodoulou J, Brown D, Lindstrom K, Grebe T, Tiosano D, Kayser MS, Tan TY, Deardorff MA, Song Y, Hakonarson H. Pathogenic variants in . Sci Adv. 2021 May 12;7(20). doi: 10.1126/sciadv.abf2066. Print 2021 May. PMID: 33980485; PMCID: PMC8115915.
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