Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_provenance.
- NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_assertion description "[A mutation in the human EMG1 homolog causes Bowen-Conradi syndrome (BCS), a developmental disorder characterized by severe growth failure and psychomotor retardation leading to death in early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_provenance.
- NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_assertion evidence source_evidence_literature NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_provenance.
- NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_assertion SIO_000772 20858271 NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_provenance.
- NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_assertion wasDerivedFrom befree-20140225 NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_provenance.
- NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_assertion wasGeneratedBy ECO_0000203 NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP239204.RAU8h1u-bWa4TxBB5hwr8hGCbPvTzq4R4lnUgBOVzOxQ8130_provenance.