Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.E303insFs
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AVPR2

NM_000054.7:p.E303insFs

Associated Papers

Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.

Arthus MF et al.

Journal of the American Society of Nephrology : Jasn, 2000

Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.

Ala Y et al.

Journal of the American Society of Nephrology : Jasn, 1998

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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."