Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A165P
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AVPR2

NM_000054.7:p.A165P

Associated Papers

Functional characterization and cAMP-mediated rescue of a novel truncating AVPR2 mutation causing nephrogenic diabetes insipidus.

Manoel D et al.

American Journal of Physiology. Endocrinology and Metabolism, 2025

Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus.

Selvaraj S et al.

Journal of Personalized Medicine, 2022

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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."