Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.S18del1
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AVP

NM_000490.5:p.S18del1

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

Response to Letter to the Editor: "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

Letter to the Editor: "Forty-One Individuals With Mutations in the AVP-NPII Gene Associated With Familial Neurohypophyseal Diabetes Insipidus."

Patti G et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP-NPII gene.

Yang H et al.

Experimental and Therapeutic Medicine, 2019

Hereditary Neurohypophyseal Diabetes Insipidus.

Rutishauser J et al.

Experientia Supplementum (2012), 2019

The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants.

Toustrup LB et al.

Neuroendocrinology, 2018

A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing.

Kvistgaard H et al.

Neuroendocrinology, 2018

Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene.

Toustrup LB et al.

Stem Cell Research, 2017

Central diabetes insipidus.

Arima H et al.

Nagoya Journal of Medical Science, 2016

Early-onset central diabetes insipidus is associated with de novo arginine vasopressin-neurophysin II or Wolfram syndrome 1 gene mutations.

Perrotta S et al.

European Journal of Endocrinology, 2015

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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."