Publications

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Filters: Keyword is Cell Line and Author is Mace, Emily M  [Clear All Filters]
2020
Mace, E. M. et al. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest 130, 5272-5286 (2020).
2018
M Poli, C. et al. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet 102, 1126-1142 (2018).