Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S255delFs
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AVPR2

NM_000054.7:p.S255delFs

Associated Papers

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.

Spanakis E et al.

Journal of Cellular Physiology, 2008

Congenital nephrogenic diabetes insipidus.

Bichet DG et al.

Journal of the American Society of Nephrology : Jasn, 1997

Molecular analysis of X-linked nephrogenic diabetes insipidus.

Fujiwara TM et al.

European Journal of Endocrinology, 1996

Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.

Faà V et al.

Human Molecular Genetics, 1994

X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.

Bichet DG et al.

The Journal of Clinical Investigation, 1993

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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."