Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_provenance.
- NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_assertion description "[Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures (juvenile audiogenic monogenic seizure 1, jams1) in mice and autosomal recessive deafness DFNB15 and DFNB95 in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_provenance.
- NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_assertion evidence source_evidence_curated NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_provenance.
- NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_assertion SIO_000772 21326233 NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_provenance.
- NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_assertion wasDerivedFrom uniprot-20150221 NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_provenance.
- NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_assertion wasGeneratedBy ECO_0000218 NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP4197.RAc8HAEmhqt9Bfl27gyaL6T4o5OrLRSS97ORhvMPCPbYI130_provenance.