Varaico: Literature-Extracted Genetic Variants

Gene:AVP
Variant:p.Q23E
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AVP

NM_000490.5:p.Q23E

Associated Papers

A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus.

DiMeglio LA et al.

Molecular Genetics and Metabolism, 2001

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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."