Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_provenance.
- NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_assertion description "[Germline mutations in the SMARCB1 gene cause familial schwannomatosis, a condition characterized by the presence of multiple schwannomas, although mutations in SMARCB1 have also been associated with rhadboid tumor predisposition syndrome 1 (RTPS1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_provenance.
- NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_assertion evidence source_evidence_literature NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_provenance.
- NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_assertion SIO_000772 22752724 NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_provenance.
- NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_assertion wasDerivedFrom befree-20140225 NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_provenance.
- NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_assertion wasGeneratedBy ECO_0000203 NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_provenance.
- befree-20140225 importedOn "2014-02-25" NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_provenance.