Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.C59Y
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AVP

NM_000490.5:p.C59Y

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

Central diabetes insipidus.

Arima H et al.

Nagoya Journal of Medical Science, 2016

Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene.

Brachet C et al.

European Journal of Endocrinology, 2011

Familial neurohypophyseal diabetes insipidus--an update.

Christensen JH et al.

Seminars in Nephrology, 2006

A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.

Skordis N et al.

Hormone Research, 2000

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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."