Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_provenance.
- NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_assertion description "[Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_provenance.
- NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_assertion evidence source_evidence_curated NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_provenance.
- NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_assertion SIO_000772 9486973 NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_provenance.
- NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_assertion wasDerivedFrom uniprot-2016 NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_provenance.
- NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_assertion wasGeneratedBy ECO_0000218 NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9654.RAKvaEEDnIRmjr1mXTUpSYFY4sP2P54MfA-RB_IoAZQ3c130_provenance.