Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.N321N
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AVPR2

NM_000054.7:p.N321N

Associated Papers

A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation.

Li L et al.

International Medical Case Reports Journal, 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

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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."