Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_provenance.
- NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_assertion description "[Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_provenance.
- NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_assertion evidence source_evidence_curated NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_provenance.
- NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_assertion SIO_000772 10678662 NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_provenance.
- NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_assertion wasDerivedFrom uniprot-2016 NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_provenance.
- NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_assertion wasGeneratedBy ECO_0000218 NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP646.RA5c9xPzbyiOZzyXBYWX9P7xMLHbYEHqjWpwN-aMaLdAM130_provenance.