Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_provenance.
- NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_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." NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_provenance.
- NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_assertion evidence source_evidence_curated NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_provenance.
- NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_assertion SIO_000772 21326233 NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_provenance.
- NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_assertion wasDerivedFrom uniprot-2016 NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_provenance.
- NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_assertion wasGeneratedBy ECO_0000218 NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6528.RA9W5ULp6f-GfFdUUmODPs3fJfXz0ozTEbPV94UmmoHT4130_provenance.