Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.N220T
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AQP2

NM_000486.6:p.N220T

Associated Papers

Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.

Lazaro-Guevara J et al.

American Journal of Nephrology, 2021

GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.

Bichet DG

European Journal of Endocrinology, 2020

Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.

Long BC et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

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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."