Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.E250delFs
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AQP2

NM_000486.6:p.E250delFs

Associated Papers

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

Gao C et al.

Cells, 2020

Genetics of Diabetes Insipidus.

Schernthaner-Reiter MH et al.

Endocrinology and Metabolism Clinics of North America, 2017

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

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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."