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Khayat MM, Li H, Chander V, et al. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021;42(5):577-591doi: 10.1002/humu.24190.
Khayat, M. M., Li, H., Chander, V., Hu, J., Hansen, A. W., Li, S., Traynelis, J., Shen, H., Weissenberger, G., Stossi, F., Johnson, H. L., Lupski, J. R., Posey, J. E., Sabo, A., Meng, Q., Murdock, D. R., Wangler, M., & Gibbs, R. A. (2021). Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Human mutation, 42(5), 577-591. https://doi.org/10.1002/humu.24190
Khayat, Michael M, et al. "Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome." Human mutation vol. 42,5 (2021): 577-591. doi: https://doi.org/10.1002/humu.24190
Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, Johnson HL, Lupski JR, Posey JE, Sabo A, Meng Q, Murdock DR, Wangler M, Gibbs RA. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021 May;42(5):577-591. doi: 10.1002/humu.24190. Epub 2021 Mar 06. PMID: 33644933; PMCID: PMC8115934.
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