Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_provenance.
- NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_assertion description "[Here we report the discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_provenance.
- NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_assertion evidence source_evidence_curated NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_provenance.
- NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_assertion SIO_000772 23603762 NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_provenance.
- NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_assertion wasDerivedFrom ctd_human-20130708 NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_provenance.
- NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_assertion wasGeneratedBy ECO_0000218 NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP33143.RAfy8ouw03Ta3FsN145f6Gx7ey4ZnHTmHQbvTxyAz1quI130_provenance.