Publications

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Filters: Keyword is Proteasome Endopeptidase Complex and Author is Poli, M Cecilia  [Clear All Filters]
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).