Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_provenance.
- NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_assertion description "[Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_provenance.
- NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_assertion evidence source_evidence_literature NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_provenance.
- NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_assertion SIO_000772 16684786 NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_provenance.
- NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_assertion wasDerivedFrom befree-20150227 NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_provenance.
- NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_assertion wasGeneratedBy ECO_0000203 NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_provenance.
- befree-20150227 importedOn "2015-02-27" NP406980.RAFbkjvPfNoBJP8UxzxDXGEts9ApukqxuVnKhvDFYoXgc130_provenance.