Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_provenance.
- NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_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." NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_provenance.
- NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_assertion evidence source_evidence_literature NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_provenance.
- NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_assertion SIO_000772 21677667 NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_provenance.
- NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_assertion wasDerivedFrom befree-20150227 NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_provenance.
- NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_assertion wasGeneratedBy ECO_0000203 NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_provenance.
- befree-20150227 importedOn "2015-02-27" NP961895.RAQg2iuaAuRyOXhDkWhopKnaEReyWrvhKMLEC3gv6oHRs130_provenance.