Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_assertion> ?p ?o ?g. }
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- NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_assertion type Assertion NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_head.
- NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_assertion description "[We have identified mutations in an X chromosome-linked, Aristaless-related, homeobox gene (ARX), in nine families with mental retardation (syndromic and nonspecific), various forms of epilepsy, including infantile spasms and myoclonic seizures, and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_provenance.
- NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_assertion evidence source_evidence_literature NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_provenance.
- NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_assertion SIO_000772 11889467 NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_provenance.
- NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_assertion wasDerivedFrom befree-20140225 NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_provenance.
- NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_assertion wasGeneratedBy ECO_0000203 NP251297.RAsiSFXgqtyLjQZTjFtNbO_grRpeJhwEPzUsakI8PJV3E130_provenance.