Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.C98S
Back to variants list

AVP

NM_000490.5:p.C98S

Associated Papers

Familial neurohypophyseal diabetes insipidus: clinical, genetic and functional studies of novel mutations in the arginine vasopressin gene.

Alvelos MI et al.

Pituitary, 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

Familial neurohypophyseal diabetes insipidus--an update.

Christensen JH et al.

Seminars in Nephrology, 2006

Clinical features, diagnosis and molecular studies of familial central diabetes insipidus.

Davies JH et al.

Hormone Research, 2005

Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety.

Baglioni S et al.

European Journal of Endocrinology, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."