Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.N123D
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AQP2

NM_000486.6:p.N123D

Associated Papers

Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression.

Shinbo I et al.

The American Journal of Physiology, 1999

Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function.

Goji K et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

Structure of aquaporin-2 vasopressin water channel.

Bai L et al.

The Journal of Biological Chemistry, 1996

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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."