Title : Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.

Pub. Date : 2018 Sep

PMID : 29594432






1 Functional Relationships(s)
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1 Congenital nephrogenic diabetes insipidus (CNDI) is characterized by the reduced ability of renal collecting duct cells to reabsorb water in response to the antidiuretic effect of vasopressin. Water arginine vasopressin Homo sapiens