Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.A147V
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AQP2

NM_000486.6:p.A147V

Associated Papers

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

Wildin RS et al.

Kidney International, 1998

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

Vargas-Poussou R et al.

Journal of the American Society of Nephrology : Jasn, 1997

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."