. . . . . . . "[COS7 cells were transiently transfected with plasmids encoding mutant forms of the V2 vasopressin receptors corresponding to mutations [Y280C, L292P, R337stop, V277A, and G12E (the latter found in the same kindred with L292P)] recently identified in subjects with X-linked nephrogenic diabetes insipidus (NDI). cAMP response to dDAVP and AVP, saturation binding experiments with [3H]-AVP, immunofluorescence, and indirect ELISA studies were performed to characterize the functional consequences of these mutations.]. 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 . "2017-10-17T13:10:48+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .