Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance.
- NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_assertion description "[Whole-exome sequencing with a trio analysis (affected child compared to unaffected parents) was performed and identified a novel de novo missense mutation in GRIN2A, c.2449A>G, p.Met817Val, as the likely cause of the refractory epilepsy and global developmental delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance.
- NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_assertion evidence source_evidence_literature NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance.
- NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_assertion SIO_000772 24903190 NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance.
- NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_assertion wasDerivedFrom befree-2016 NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance.
- NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_assertion wasGeneratedBy ECO_0000203 NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance.
- befree-2016 importedOn "2016-02-19" NP1189295.RAkUm9VpSY5MraeMcqOPW_jm0P8SinmvKG_pXfxmVLH60130_provenance.