Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R202_R203del1
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AVPR2

NM_000054.7:p.R202_R203del1

Associated Papers

Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother.

Qin S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.

Spanakis E et al.

Journal of Cellular Physiology, 2008

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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."