Haploinsufficiency

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Dugger, S. A., Dhindsa, R. S., Sampaio, G. D. A., Ressler, A. K., Rafikian, E. E., Petri, S., Letts, V. A., Teoh, J., Ye, J., Colombo, S., Peng, Y., Yang, M., Boland, M. J., Frankel, W. N., & Goldstein, D. B. (2023). Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency. PLOS Genetics, 19(10), e1010952. https://doi.org/10.1371/journal.pgen.1010952
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Alinger, J. B., Mace, E. M., Porter, Justin. R., Mah-Som, A. Y., Daugherty, A. L., Li, S., Throm, A. A., Pingel, J. T., Saucier, N., Yao, A., Chinn, I. K., Lupski, J. R., Ehlayel, M., Keller, M., Bowman, G. R., Cooper, M. A., Orange, J. S., & French, A. R. (2024). Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency. Journal of Allergy and Clinical Immunology, 153(1), 216–229. https://doi.org/10.1016/j.jaci.2023.09.002
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