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Kamada A, Hirose T, Sato S, Takahashi C, Kaburaki T, Sato K, Ishikawa R, Endo A, Ito H, Oba-Yabana I, Nakamura H, Matsuyama M, Mori T. Construction of arginine vasopressin receptor 2-deficient rats by the rGONAD method. Clin Exp Nephrol. 2025; 29:888-898.","DOI":"10.1007\/s10157-025-02652-5"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Cannon JF. Diabetes insipidus; clinical and experimental studies with consideration of genetic relationships. AMA Arch Intern Med. 1955; 96:215-272.","DOI":"10.1001\/archinte.1955.00250130089012"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Morello JP, Bichet DG. Nephrogenic diabetes insipidus. Annu Rev Physiol. 2001; 63:607-630.","DOI":"10.1146\/annurev.physiol.63.1.607"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Cutler RE, Kleeman CR, Maxwell MH, Dowling JT. Physiologic studies in nephrogenic diabetes insipidus. 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