Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_provenance.
- NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_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." NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_provenance.
- NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_assertion evidence source_evidence_literature NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_provenance.
- NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_assertion SIO_000772 11889467 NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_provenance.
- NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_assertion wasDerivedFrom befree-20140225 NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_provenance.
- NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_assertion wasGeneratedBy ECO_0000203 NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP225253.RAMZ_h_L-L_VXVQSI-fvh8GWp478GfABZD6YX1Zc6UnC4130_provenance.