Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_provenance.
- NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_assertion description "[Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_provenance.
- NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_assertion evidence source_evidence_curated NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_provenance.
- NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_assertion SIO_000772 16740914 NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_provenance.
- NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_assertion wasDerivedFrom ctd_human-20130708 NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_provenance.
- NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_assertion wasGeneratedBy ECO_0000218 NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP27050.RA41A4jRWI-aW53rIe0i1-n8_tKxZHVNlUZLpgb3UxELw130_provenance.