Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.G45C
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AVP

NM_000490.5:p.G45C

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

AVP-NPII gene mutations and clinical characteristics of the patients with autosomal dominant familial central diabetes insipidus.

Turkkahraman D et al.

Pituitary, 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."