Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance.
- NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance.
- NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_assertion evidence source_evidence_literature NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance.
- NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_assertion SIO_000772 15940695 NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance.
- NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_assertion wasDerivedFrom befree-20150227 NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance.
- NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_assertion wasGeneratedBy ECO_0000203 NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_provenance.