. . . . . . . . . . . . "[In EVAS and PS, two missense mutations are most frequently observed: L236P and T416P, as well as the mutation, regarding abnormal splicing process, i.e., IVS8+1G-A, in a total of 55% of the patients with recognised mutation of SLC26A4 gene; the remaining 45% of changes of this gene are unique mutations.]. 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 . "2016-05-13T12:46:42+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .