Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_provenance.
- NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_assertion description "[Our findings demonstrate that missense mutations in MUSK can result in a severe form of CMS and indicate that the inability of MuSK mutants to interact with Dok-7, but not with Lrp4 or Tid1, is a major determinant of the pathogenesis of the CMS caused by MUSK mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_provenance.
- NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_assertion evidence source_evidence_literature NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_provenance.
- NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_assertion SIO_000772 20371544 NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_provenance.
- NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_assertion wasDerivedFrom befree-20150227 NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_provenance.
- NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_assertion wasGeneratedBy ECO_0000203 NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP539985.RAX5nmxDAQtntWr8fIQuobscMOlVDyO69TzBDkn_B1bLU130_provenance.