Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_provenance.
- NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_assertion description "[We suggest that the instability of mutant cochlin is the major driving force for cochlin aggregation in the inner ear in DFNA9 patients carrying the COCH p.F527C mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_provenance.
- NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_assertion evidence source_evidence_curated NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_provenance.
- NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_assertion SIO_000772 22610276 NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_provenance.
- NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_assertion wasDerivedFrom uniprot-20150221 NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_provenance.
- NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_assertion wasGeneratedBy ECO_0000218 NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP223.RAwO8Mfzq04BtLGbNhhQ-QAwNcNmOSIZrp7l0pixEuL50130_provenance.