. . . . . . . "[Sequence analysis of CDA-related genes revealed that the proband with CDA ? in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ?? in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:19:08+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .