Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_provenance.
- NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_assertion description "[A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_provenance.
- NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_assertion evidence source_evidence_curated NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_provenance.
- NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_assertion SIO_000772 24750328 NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_provenance.
- NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_assertion wasDerivedFrom uniprot-2016 NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_provenance.
- NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_assertion wasGeneratedBy ECO_0000218 NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_provenance.