Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_assertion> ?p ?o ?g. }
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- NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_assertion type Assertion NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_head.
- NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_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." NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_provenance.
- NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_assertion evidence source_evidence_literature NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_provenance.
- NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_assertion SIO_000772 24903190 NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_provenance.
- NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_assertion wasDerivedFrom befree-2016 NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_provenance.
- NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_assertion wasGeneratedBy ECO_0000203 NP1189293.RAFC0sV4xbvpwnd74vitZB1RfVNdb2SsBqq10VUbjti-A130_provenance.