Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_provenance.
- NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_assertion description "[Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_provenance.
- NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_assertion evidence source_evidence_curated NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_provenance.
- NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_assertion SIO_000772 24903190 NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_provenance.
- NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_assertion wasDerivedFrom uniprot-20150221 NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_provenance.
- NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_assertion wasGeneratedBy ECO_0000218 NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3406.RA73rgt2JWuGbB5d2RJK3z_1q5NPumtFh6CZTRR2WIS_0130_provenance.