Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_assertion> ?p ?o ?g. }
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- NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_assertion type Assertion NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_head.
- NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_assertion description "[Here, we report that heterozygous germline mutations in CBL, a tumor-suppressor gene that is mutated in myeloid malignancies and encodes a multivalent adaptor protein with E3 ubiquitin ligase activity, can underlie a phenotype with clinical features fitting or partially overlapping Noonan syndrome (NS), the most common condition of this disease family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_provenance.
- NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_assertion evidence source_evidence_literature NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_provenance.
- NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_assertion SIO_000772 20619386 NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_provenance.
- NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_assertion wasDerivedFrom befree-20150227 NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_provenance.
- NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_assertion wasGeneratedBy ECO_0000203 NP608722.RAdBk12LhIjtRvMZ2GWHCIjJQkp99n8zIV_-1-CFfKubA130_provenance.