Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion description "[The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion evidence source_evidence_curated NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion SIO_000772 19509106 NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion wasDerivedFrom uniprot-20130724 NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_assertion wasGeneratedBy ECO_0000218 NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6565.RAfS-7G8xQo6Xf9zQHtNSurjZvsA4fl0ixzIOFMyB7S78130_provenance.