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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AQP2

Variant:p.L135_F136del2

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AQP2

NM_000486.6:p.L135_F136del2

hg38:chr12:49954196 GCTCTTC>G

Associated Papers

Novel AVPR2 mutations in congenital nephrogenic diabetes insipidus: clinical characteristics and genetic analysis.

Xue K et al.

Frontiers in Pediatrics, 2025

40989819 (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."