Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.G88S
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AVP

NM_000490.5:p.G88S

Associated Papers

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

A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature.

Ding C et al.

American Journal of Medical Genetics. Part A, 2020

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

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

Familial neurohypophyseal diabetes insipidus--an update.

Christensen JH et al.

Seminars in Nephrology, 2006

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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."