Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_provenance.
- NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_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." NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_provenance.
- NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_assertion evidence source_evidence_literature NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_provenance.
- NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_assertion SIO_000772 16684786 NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_provenance.
- NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_assertion wasDerivedFrom befree-2016 NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_provenance.
- NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_assertion wasGeneratedBy ECO_0000203 NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_provenance.
- befree-2016 importedOn "2016-02-19" NP548836.RAPDtbE2Skf6BRZJxClzlYNsAVqz3WWv8pMbKSUfT_0Kw130_provenance.