Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.G185_W193del9
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AVPR2

NM_000054.7:p.G185_W193del9

Associated Papers

Functional characterization of a loss-of-function mutant I324M of arginine vasopressin receptor 2 in X-linked nephrogenic diabetes insipidus.

Wang L et al.

Scientific Reports, 2021

Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus.

Bernier V et al.

Journal of the American Society of Nephrology : Jasn, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."