Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.V168fs
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AQP2

NM_000486.6:p.V168fs

Associated Papers

Phenotype and renal outcomes of patients with congenital arginine vasopressin-resistance.

Tseng MH et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025

Severe congenital nephrogenic diabetes insipidus in a compound heterozygote with a new large deletion of the AQP2 gene. A case report.

Peces R et al.

Molecular Genetics & Genomic Medicine, 2019

Genetics of Diabetes Insipidus.

Schernthaner-Reiter MH et al.

Endocrinology and Metabolism Clinics of North America, 2017

Novel autosomal recessive gene mutations in aquaporin-2 in two Chinese congenital nephrogenic diabetes insipidus pedigrees.

Cen J et al.

International Journal of Clinical and Experimental Medicine, 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."