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    A novel IRF2BPL truncating variant is associated with endolysosomal storage

    De novo mutations in the IRF2BPL gene have been identified to date in 18 patients presenting with neuromotor regression, epilepsy and variable neurological signs. Here, we report a female child carrying a novel h...

    Monia Ginevrino, Roberta Battini, Sara Nuovo… in Molecular Biology Reports (2020)