Varaico: Literature-Extracted Genetic Variants

Gene:OXER1
Variant:p.L130H
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OXER1

NM_148962.5:p.L130H

Associated Papers

Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

Erdélyi LS et al.

Kidney International, 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."