Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_assertion> ?p ?o ?g. }
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- NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_assertion type Assertion NP406907.RA8frbUnUj2u52bRXLXp57GDg6RvJDxOohmFsDI01TlHI130_head.
- 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.