Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_provenance.
- NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_assertion description "[This study identified, in the analyzed patient, a homozygous missense mutation in the ADAMTS18 gene, which was recently linked to Knobloch syndrome, a rare developmental disorder that affects the eye and the occipital skull.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_provenance.
- NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_assertion evidence source_evidence_literature NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_provenance.
- NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_assertion SIO_000772 23356391 NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_provenance.
- NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_assertion wasDerivedFrom befree-20140225 NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_provenance.
- NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_assertion wasGeneratedBy ECO_0000203 NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP905746.RAfEL5_9AdvjXGDv7W0VoWPKzvt8x-5FQxmRAvENvNYQg130_provenance.