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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AQP2

Variant:p.H80R

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AQP2

NM_000486.6:p.H80R

hg38:chr12:49951069 A>G

Associated Papers

A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus

Çelebi Tayfur A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2018

29991464 (PubMed )

The molecular basis of nephrogenic diabetes insipidus.

Oksche A et al.

Journal of Molecular Medicine (berlin, Germany), 1998

9587067 (PubMed )

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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."