Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S167_L168insFs
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AVPR2

NM_000054.7:p.S167_L168insFs

Associated Papers

Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus.

Li Q et al.

Frontiers in Endocrinology, 2021

AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.

Gao C et al.

Cells, 2020

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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."