Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.D30delFs
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AVPR2

NM_000054.7:p.D30delFs

Associated Papers

A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.

Ding C et al.

American Journal of Medical Genetics. Part A, 2020

Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.

Sasaki S et al.

Clinical and Experimental Nephrology, 2013

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."