Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.K268delFs
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AVPR2

NM_000054.7:p.K268delFs

Associated Papers

G protein-coupled receptors disrupted in human genetic disease.

Thompson MD et al.

Methods in Molecular Biology (clifton, N.j.), 2008

The G protein-coupled receptors: pharmacogenetics and disease.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2005

Association of calnexin with wild type and mutant AVPR2 that causes nephrogenic diabetes insipidus.

Morello JP et al.

Biochemistry, 2001

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

Mutations in the vasopressin V2 receptor gene in families with nephrogenic diabetes insipidus and functional expression of the Q-2 mutant.

Rosenthal W et al.

Cellular and Molecular Biology (noisy-le-grand, France), 1994

Molecular and cellular biology of vasopressin and oxytocin receptors and action in the kidney.

Bichet DG

Current Opinion in Nephrology and Hypertension, 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."