Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_provenance.
- NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_assertion description "[We also identify six families with ANKS6 mutations affected by nephronophthisis, including severe cardiovascular abnormalities, liver fibrosis and situs inversus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_provenance.
- NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_assertion evidence source_evidence_curated NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_provenance.
- NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_assertion SIO_000772 23793029 NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_provenance.
- NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_assertion wasDerivedFrom ctd_human-20150221 NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_provenance.
- NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_assertion wasGeneratedBy ECO_0000218 NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP6912.RAb8hQQ0_GJI2ky4_MtNeYvJ7CFn67aaFlboiAUaNInqY130_provenance.