Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.W200R
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AVPR2

NM_000054.7:p.W200R

Associated Papers

Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.

Ishida A et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

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."