Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_provenance.
- NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_assertion wasGeneratedBy ECO_0000218 NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_provenance.
- NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_assertion wasDerivedFrom uniprot-20150221 NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_provenance.
- NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_assertion SIO_000772 21255762 NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_provenance.
- NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_assertion evidence source_evidence_curated NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_provenance.
- NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_assertion description "[Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4006.RAetXWXhK1qkNZO0xL-dUPn7zq_avrZFeEuA-eNM2hdnM130_provenance.