Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_provenance.
- NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_assertion description "[Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_provenance.
- NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_assertion evidence source_evidence_literature NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_provenance.
- NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_assertion SIO_000772 21677667 NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_provenance.
- NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_assertion wasDerivedFrom befree-2016 NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_provenance.
- NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_assertion wasGeneratedBy ECO_0000203 NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_provenance.
- befree-2016 importedOn "2016-02-19" NP902439.RAdPq0vG3YQc2nYh6FXkeX2Ti0XmNwPnFfxdaFdVPXKV8130_provenance.