Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_provenance.
- NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_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." NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_provenance.
- NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_assertion evidence source_evidence_literature NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_provenance.
- NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_assertion SIO_000772 23603762 NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_provenance.
- NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_assertion wasDerivedFrom befree-20150227 NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_provenance.
- NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_assertion wasGeneratedBy ECO_0000203 NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_provenance.
- befree-20150227 importedOn "2015-02-27" NP524251.RAaMLh5O_90GHVa-LpivOs4sYcREx5RaOdSKCCJm_TRms130_provenance.