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Molecular Genetics and Metabolism Reports
By Michael Schlotterbek, Ute Grasshoff, Sarah Baumann and 4 others.
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Clinical and molecular findings in two siblings with neuroblastoma-amplified sequence (NBAS) deficiency corroborates a more severe phenotype for compound-heterozygous truncating and splice variants in NBAS, in response to Silverstein et al. [1] Clinician Scientist program "PRECISE.net2.0" funded by the Else Kröner-Fresenius-Stiftung.
Published in Molecular Genetics and Metabolism Reports. The abstract is shown as published and remains the work of its authors; read the full article at the source.
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