Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_provenance.
- NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_assertion wasGeneratedBy ECO_0000203 NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_provenance.
- NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_assertion wasDerivedFrom befree-20140225 NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_provenance.
- NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_assertion SIO_000772 21533187 NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_provenance.
- NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_assertion evidence source_evidence_literature NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_provenance.
- NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_assertion description "[We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a `second hit,` that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP378373.RAql_2PGVRybSGrd91U7ArsuaWRM9FgCG0irg-GUz2Ls8130_provenance.