Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_provenance.
- NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_assertion description "[We describe a previously unreported 437 T?G missense mutation producing a V146G substitution in the first coiled-coil (CC1) domain of nuclear factor-?B essential modulator (NEMO) in a 9-month-old boy with ectodermal dysplasia with immunodeficiency who presented with methicillin-resistant Staphylococcus aureus subdural empyema.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_provenance.
- NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_assertion evidence source_evidence_literature NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_provenance.
- NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_assertion SIO_000772 20652730 NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_provenance.
- NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_assertion wasDerivedFrom befree-20140225 NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_provenance.
- NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_assertion wasGeneratedBy ECO_0000203 NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_provenance.
- befree-20140225 importedOn "2014-02-25" NP613974.RAcia31LpTWcumzf33-w1xY3MeZv0B9mvXAdLhEAEz1Ek130_provenance.