. . . . . . . . . . . . "[In one ISS patient we identified a novel transition T>C (TGT>TGC) of position 3 of codon 94 , determining the synonymous change C94C.]. 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 . "2016-05-13T12:45:39+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .