Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.C112delFs
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AVPR2

NM_000054.7:p.C112delFs

Associated Papers

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

Spanakis E et al.

Journal of Cellular Physiology, 2008

Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones.

Cheong HI et al.

Nephrology (carlton, Vic.), 2007

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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."