Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_provenance.
- NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_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." NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_provenance.
- NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_assertion evidence source_evidence_literature NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_provenance.
- NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_assertion SIO_000772 22752724 NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_provenance.
- NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_assertion wasDerivedFrom befree-2016 NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_provenance.
- NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_assertion wasGeneratedBy ECO_0000203 NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_provenance.
- befree-2016 importedOn "2016-02-19" NP994635.RAqI9Vi-LwRJKj1-wUgSzphAl1s1KwAcRYI0IIYduaT_0130_provenance.