. . . . . . . . . . . . "[BACKGROUND AND PURPOSE Glycine receptor α1 subunit R271Q and R271L (α1R271Q/L) mutations cause the neuromotor disorder, hereditary hyperekplexia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:35:17+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .