Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.S167F
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AQP2

NM_000486.6:p.S167F

Associated Papers

Novel AVPR2 mutations in congenital nephrogenic diabetes insipidus: clinical characteristics and genetic analysis.

Xue K et al.

Frontiers in Pediatrics, 2025

Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.

Li Q et al.

Journal of Endocrinological Investigation, 2021

Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.

Joshi S et al.

European Journal of Pediatrics, 2018

[Congenital nephrogenic diabetes insipidus. A four-month-old girl with delayed psychomotor development].

Hagstrøm S et al.

Ugeskrift for Laeger, 2005

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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."