Clinical and Functional Characterization of a novel mutation in AVPR2 causing Nephrogenic Diabetes Insipidus in a four-generation Chinese family
收藏NIAID Data Ecosystem2026-03-13 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP340718
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资源简介：
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease that is caused by mutations in arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2). Next-generation sequencing identified a novel mutation in AVPR2 gene (c.530T>A) in a Chinese family
创建时间：
2021-11-08
