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Dorenkamp, Moritz; Porret, Naomi; Diepold, Miriam; Rovó, Alicia (2023). A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature. Medicina, 59(11) MDPI 10.3390/medicina59111953
