Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_provenance.
- NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_assertion description "[Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_provenance.
- NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_assertion evidence source_evidence_curated NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_provenance.
- NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_assertion SIO_000772 8227344 NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_provenance.
- NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_assertion wasDerivedFrom uniprot-20130724 NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_provenance.
- NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_assertion wasGeneratedBy ECO_0000218 NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP207.RARdWpib2ofoy5nbuD2Xv7g1Ovtt_vxYbtlLlwiJPzKEI130_provenance.