Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance.
- NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_assertion wasGeneratedBy ECO_0000218 NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance.
- NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_assertion wasDerivedFrom uniprot-20130724 NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance.
- NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_assertion SIO_000772 12112664 NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance.
- NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_assertion evidence source_evidence_curated NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance.
- NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_assertion description "[Analysis of the MYO7A gene in patients from 30 USH1 families and sporadic cases identified 32% of disease alleles, with mutation Q821X being the most frequent.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4348.RAYiKI1NBP1IlR7SdwUte5lDQZI_ur2GEOaZvLhSANqKo130_provenance.