Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.Q40_C41Splc
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AVP

NM_000490.5:p.Q40_C41Splc

Associated Papers

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

Genetic forms of neurohypophyseal diabetes insipidus.

Rutishauser J et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2016

Early-Onset Central Diabetes Insipidus due to Compound Heterozygosity for AVP Mutations.

Bourdet K et al.

Hormone Research in Paediatrics, 2016

Gene symbol: AVP. Disease: Diabetes Insipidus, neurohypophyseal.

Bruggeman EJ

Human Genetics, 2008

A family with congenital hypothalamic neurohypophyseal diabetes insipidus.

Meinders AE et al.

Folia Medica Neerlandica, 1970

Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature.

Koufaris C et al.

Hormones (athens, Greece), 0

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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."