Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion description "[A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion evidence source_evidence_literature NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion SIO_000772 22132097 NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion wasDerivedFrom befree-20140225 NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_assertion wasGeneratedBy ECO_0000203 NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP521208.RAnkXPu96m4dun8BVuh8_KVDW8lU7VPInFY39hXiMMhM8130_provenance.