dgn-np:NP225903.RA4O9uKDcAKTdqNzwxhtTlt_5nXVa4Vc6QJ2e2XkBCShA130_provenance {
  dgn-np:NP225903.RA4O9uKDcAKTdqNzwxhtTlt_5nXVa4Vc6QJ2e2XkBCShA130_assertion dcterms:description "[To confirm linkage of the locus of the major form of hyperekplexia to markers on chromosome 5q, to screen for a point mutation in the gene encoding the alpha 1 subunit of the glycine receptor, and to investigate whether the putative 'minor' form of hyperkeplexia consisting of an excessive startle response without stiffness, is based on the same genetic defect as the major form.]. 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:7763205 ;
    prov:wasDerivedFrom dgn-void:befree-20150227 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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 .
}