Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance.
- NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_assertion wasGeneratedBy ECO_0000218 NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance.
- NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_assertion wasDerivedFrom uniprot-20130724 NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance.
- NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_assertion SIO_000772 11968094 NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance.
- NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_assertion evidence source_evidence_curated NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance.
- NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_assertion description "[A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3085.RAXHQYpHziwkWB-VuluUOgSYCC1VeUzHKEj9iKeKS5i-I130_provenance.