Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.L59P
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AQP2

NM_000486.6:p.L59P

Associated Papers

Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation.

Prosperi F et al.

Scientific Reports, 2020

Molecular and cellular defects in nephrogenic diabetes insipidus.

Knoers NV et al.

Pediatric Nephrology (berlin, Germany), 2001

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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."