Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_provenance.
- NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_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." NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_provenance.
- NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_assertion evidence source_evidence_curated NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_provenance.
- NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_assertion SIO_000772 16740914 NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_provenance.
- NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_assertion wasDerivedFrom ctd_human-2016 NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_provenance.
- NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_assertion wasGeneratedBy ECO_0000218 NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP17559.RAy29GMbulvT9I_68RRA8e2tJ-Hj97p2osJF17p0Me4xc130_provenance.