Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion wasGeneratedBy ECO_0000203 NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion wasDerivedFrom befree-20140225 NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion SIO_000772 9633819 NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion evidence source_evidence_literature NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_assertion description "[A further CESD patient was hemizygous for a His108-->Arg missense mutation (CAT-->CGT) in combination with a partial deletion of the LAL gene and was affected more severely.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.
- befree-20140225 importedOn "2014-02-25" NP803128.RAhhHNPubago95_vbT0N_EO_g23N3jzwgaSW3tO4mcW_s130_provenance.