Varaico: Literature-Extracted Genetic Variants

Gene:OPN4
Variant:p.T48_A49Splc
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OPN4

NM_033282.4:p.T48_A49Splc

Associated Papers

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

Bourdet K et al.

Hormone Research in Paediatrics, 2016

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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."