| http://purl.uniprot.org/citations/33550024 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33550024 | http://www.w3.org/2000/01/rdf-schema#comment | "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 cancers, particularly acute myeloid leukemia (AML). Here, we present a 5-year-old male patient with a history of AML, diffuse midline glioma, and left brain lesion with histiocytic features. A variant of uncertain significance (VUS): p.L493F was detected in his CBL gene via clinical evaluation. Protein modeling predicts this variant to be pathogenic. Details of the clinical evaluation and modeling assay are discussed."xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.cancergen.2021.01.008"xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/author | "Green A.L."xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/author | "Wu Y.H."xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/author | "Tsai A.C."xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/author | "Caulfield T."xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/author | "Schneider K.W."xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/author | "Norris G.A."xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/name | "Cancer Genet"xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/pages | "18-24"xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/title | "A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers."xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://purl.uniprot.org/core/volume | "254-255"xsd:string |
| http://purl.uniprot.org/citations/33550024 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/33550024 |
| http://purl.uniprot.org/citations/33550024 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/33550024 |
| http://purl.uniprot.org/uniprot/#_A0A0U1ZE08-mappedCitation-33550024 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33550024 |
| http://purl.uniprot.org/uniprot/#_P22681-mappedCitation-33550024 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33550024 |
| http://purl.uniprot.org/uniprot/#_Q6LB30-mappedCitation-33550024 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33550024 |
| http://purl.uniprot.org/uniprot/P22681 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/33550024 |
| http://purl.uniprot.org/uniprot/A0A0U1ZE08 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/33550024 |
| http://purl.uniprot.org/uniprot/Q6LB30 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/33550024 |