Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.Y21S
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AVP

NM_000490.5:p.Y21S

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

Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus.

García-Castaño A et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Central diabetes insipidus.

Arima H et al.

Nagoya Journal of Medical Science, 2016

A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus.

Kobayashi H et al.

Journal of Endocrinological Investigation, 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."