Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.G88V
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AVP

NM_000490.5:p.G88V

Associated Papers

Investigation of Fibrillar Aggregates Formed by Pathogenic Pre-pro-vasopressin Mutants that Cause ADNDI.

Vaizoglu RD et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Functional analyses of three different mutations in the AVP-NPII gene causing familial neurohypophyseal diabetes insipidus.

Türkmen MÖ et al.

Endocrine, 2021

Central diabetes insipidus.

Arima H et al.

Nagoya Journal of Medical Science, 2016

A need for a systematic genetic evaluation of hereditary polyuric patients.

Bichet DG et al.

Clinical Kidney Journal, 2016

Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.

Duzenli D et al.

Endocrine, 2012

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel mutation in arginine-vasopressin gene in a Brazilian family.

Melo ME et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2008

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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."