A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers.
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DOI: 10.1016/j.cancergen.2021.01.008
Abstract: CBL is a mammalian gene encoding the protein CBL, which is an E3 ubiquitin-protein ligase involved in cell signaling and protein ubiquitination. Pathogenic variants in this gene have been implicated in a number of human… read more here.
Keywords: cbl; germline deactivating; deactivating cbl; cbl variant ... See more keywords