Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_provenance.
- NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_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." NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_provenance.
- NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_assertion evidence source_evidence_literature NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_provenance.
- NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_assertion SIO_000772 23603762 NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_provenance.
- NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_assertion wasDerivedFrom befree-20140225 NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_provenance.
- NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_assertion wasGeneratedBy ECO_0000203 NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP937550.RAXo5bTW35X0M6APoLH7WXSA58khmUo_H20m4m41tQdxM130_provenance.