Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_provenance.
- NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_assertion description "[Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_provenance.
- NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_assertion evidence source_evidence_curated NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_provenance.
- NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_assertion SIO_000772 11916616 NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_provenance.
- NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_assertion wasDerivedFrom uniprot-2016 NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_provenance.
- NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_assertion wasGeneratedBy ECO_0000218 NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1948.RAz6MTLmBfeoeV2aoEwY1WUbcm8lTchniyCgdgrm0D6Qs130_provenance.