Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.C105S
Back to variants list

AVP

NM_000490.5:p.C105S

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

Generation of four induced pluripotent stem cell lines (FHUi003-A, FHUi003-B, FHUi004-A and FHUi004-B) from two affected individuals of a familial neurohypophyseal diabetes insipidus family.

Yoshida S et al.

Stem Cell Research, 2020

Central diabetes insipidus.

Arima H et al.

Nagoya Journal of Medical Science, 2016

Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus.

Chitturi S et al.

Clinical Endocrinology, 2008

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."