Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A147T
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AVPR2

NM_000054.7:p.A147T

Associated Papers

AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.

Gao C et al.

Cells, 2020

GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.

Bichet DG

European Journal of Endocrinology, 2020

Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.

Bichet DG et al.

Clinical Kidney Journal, 2012

[Nephrogenic diabetes insipidus].

Kondo Y

Nihon Jinzo Gakkai Shi, 2011

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.

Robben JH et al.

American Journal of Physiology. Renal Physiology, 2006

Congenital nephrogenic diabetes insipidus.

Bichet DG et al.

Journal of the American Society of Nephrology : Jasn, 1997

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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."