Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_assertion> ?p ?o ?g. }
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- NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_assertion type Assertion NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_head.
- NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_assertion description "[This is the first report of a SMARCB1 germline mutation in a family with schwannomatosis characterized by the development of multiple meningiomas.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_provenance.
- NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_assertion evidence source_evidence_literature NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_provenance.
- NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_assertion SIO_000772 19582488 NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_provenance.
- NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_assertion wasDerivedFrom befree-20140225 NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_provenance.
- NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_assertion wasGeneratedBy ECO_0000203 NP514820.RAi22Dk9bPIPHcgiAdDeTF8mqAAQMe11jTywM2JEg0XAc130_provenance.