Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_assertion> ?p ?o ?g. }
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- NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_assertion type Assertion NP7875.RAUW2F-bdbeU-cGFBzCZ-CuK2IQ3dlMJqivt7X6VdZQvg130_head.
- 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.