Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_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." NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion evidence source_evidence_curated NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion SIO_000772 9486973 NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion wasDerivedFrom uniprot-20150221 NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_assertion wasGeneratedBy ECO_0000218 NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP4297.RAIRYeaGvSppdMYS5oeyUV_ST8xyk0Xqcu9djcf54AQ20130_provenance.