Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_assertion type Assertion NP685136.RAr88LJ4iZKeMkH5T-ZHgmatbK_VR_1ZRHJ52TQRHyN5o130_head.
- 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.