Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_provenance.
- NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_assertion wasGeneratedBy ECO_0000203 NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_provenance.
- NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_assertion wasDerivedFrom befree-20140225 NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_provenance.
- NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_assertion SIO_000772 7501157 NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_provenance.
- NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_assertion evidence source_evidence_literature NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_provenance.
- NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_assertion description "[An ataxic form of GSS is genetically linked to a mutation at codon 102 (CCG-->CTG) leading to the substitution of leucine for proline, while a `telencephalic` variant of GSS, in which dementia is the predominant symptom and ataxia is minimal, has been described in two kindreds with a mutation at codon 117 (GCA-->GTG) resulting in the substitution of valine for alanine.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP717585.RApmfpkDBMqTXUrStNacqtdhspd0Vr-IvxwZzIo3ictF8130_provenance.