Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.T69_A70del1
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AVP

NM_000490.5:p.T69_A70del1

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 Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of Literature.

Feldkamp LLI et al.

Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020

Central diabetes insipidus.

Arima H et al.

Nagoya Journal of Medical Science, 2016

Identification of a Novel Deletion in AVP-NPII Gene in a Patient with Central Diabetes Insipidus.

Deniz F et al.

Annals of Clinical and Laboratory Science, 2015

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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."