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EMBO Molecular Medicine|June 6, 2020
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stressAriane Kröll-Hermi, Frédéric Ebstein, Corinne Stoetzel, et al.American Journal of Human Genetics|May 29, 2018
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory SyndromeM Cecilia Poli, Frédéric Ebstein, Sarah K Nicholas, et al.Pageof 8