sub:provenance {
  sub:assertion dcterms:description "[The mutations in the glycine receptor ?1 subunit (?1R271Q/L) which cause the neuromotor disorder hyperekplexia are on example of such allosteric mutations.In this issue of the BJP, Shan et?al. show that normal function was restored to these mutant receptors by substitution of the segment which contained the mutated position, by a homologous one.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_literature ;
    sio:SIO_000772 miriam-pubmed:22122331 ;
    prov:wasDerivedFrom dgn-void:BEFREE ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:BEFREE pav:importedOn "2017-02-19"^^xsd:date .
  dgn-void:source_evidence_literature a eco:ECO_0000212 ;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en ;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}