Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_provenance.
- NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_assertion description "[Linkage analysis and direct sequencing of candidate genes in another two families and a sporadic case with phenotypes best described as WMS-like led to the identification of three homozygous mutations in the closely related ADAMTS17 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_provenance.
- NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_assertion evidence source_evidence_literature NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_provenance.
- NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_assertion SIO_000772 19836009 NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_provenance.
- NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_assertion wasDerivedFrom befree-20140225 NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_provenance.
- NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_assertion wasGeneratedBy ECO_0000203 NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_provenance.
- befree-20140225 importedOn "2014-02-25" NP839254.RAwV8wYlF7r7SVSrqgQ4GnpZCflea9O6Ati3_JyxsVIds130_provenance.