Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.S167T
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AQP2

NM_000486.6:p.S167T

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

Molecular and cellular defects in nephrogenic diabetes insipidus.

Knoers NV et al.

Pediatric Nephrology (berlin, Germany), 2001

AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.

Wildin RS et al.

Kidney International, 1998

The molecular basis of nephrogenic diabetes insipidus.

Oksche A et al.

Journal of Molecular Medicine (berlin, Germany), 1998

Vasopressin receptors in health and disease.

Bichet DG

Kidney International, 1996

Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

Wildin RS et al.

American Journal of Human Genetics, 1994

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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."