. . . . . . . . . . . . "[Molecular testing for Friedreich ataxia showed significantly expanded GAA repeats at 799 (abnormal >67 GAA repeats) on one allele and a heterozygous disease causing mutation, c.317T>C (p.Leu106Ser) on the other allele, confirming the diagnosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:50:55+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .