Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_provenance.
- NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_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." NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_provenance.
- NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_assertion evidence source_evidence_literature NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_provenance.
- NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_assertion SIO_000772 20652730 NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_provenance.
- NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_assertion wasDerivedFrom befree-20140225 NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_provenance.
- NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_assertion wasGeneratedBy ECO_0000203 NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_provenance.
- befree-20140225 importedOn "2014-02-25" NP431454.RAsYv2oF-Iwq7tc50y2cwX_ENZlpL0pbv2iDvt7UK_D8U130_provenance.