Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_provenance.
- NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_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." NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_provenance.
- NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_assertion evidence source_evidence_curated NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_provenance.
- NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_assertion SIO_000772 8227344 NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_provenance.
- NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_assertion wasDerivedFrom uniprot-2016 NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_provenance.
- NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_assertion wasGeneratedBy ECO_0000218 NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP8803.RA5KdDsUlkQfB6tCDH3QRVRWKzz3ZpecbSX6zCM2DFd7Y130_provenance.