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Nephrogenic diabetes insipidus caused by a novel missense variant (p.S127Y) in the AVPR2 gene |
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| Authors: | Takatoshi Maeyama Yuri Etani Satsuki Nishigaki Masanobu Kawai |
| Affiliation: | 1. Department of Gastroenterology, Nutrition and Endocrinology, Osaka Women’s and Children’s Hospital, Osaka, Japan;2. Department of Bone and Mineral Research, Research Institute, Osaka Women’s and Children’s Hospital, Osaka, Japan |
| Abstract: | |
| Keywords: | nephrogenic diabetes insipidus AVPR2 novel variant |