Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_provenance.
- NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_assertion description "[A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_provenance.
- NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_assertion evidence source_evidence_curated NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_provenance.
- NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_assertion SIO_000772 14684684 NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_provenance.
- NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_assertion wasDerivedFrom uniprot-20130724 NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_provenance.
- NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_assertion wasGeneratedBy ECO_0000218 NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP170.RAL88w9d5HyBPy_pZV6KfZCDSOU9vEg-h5eE90r0ku5uE130_provenance.