Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_provenance.
- NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_assertion description "[A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_provenance.
- NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_assertion evidence source_evidence_curated NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_provenance.
- NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_assertion SIO_000772 8823308 NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_provenance.
- NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_assertion wasDerivedFrom uniprot-2016 NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_provenance.
- NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_assertion wasGeneratedBy ECO_0000218 NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9151.RA7SUDDpkT4HnrptKFTcBnehHEZ0G44cpBOfYgBz0y1q8130_provenance.