Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion description "[Missense mutations c.341A > T (p.Asp113Val) in exon 4 and c.663T > G (p.Asn220Lys) in exon 7 are associated with hereditary nonspherocytic hemolytic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion evidence source_evidence_literature NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion SIO_000772 17041899 NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion wasDerivedFrom lhgdn-20090331 NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_assertion wasGeneratedBy ECO_0000203 NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP147827.RAEi02wT2mGQuheuTWqTusn0UdxPv6z-NaST4E4nx8HrI130_provenance.