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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AVPR2

Variant:p.S331_V332del2

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AVPR2

NM_000054.7:p.S331_V332del2

hg38:chrX:153906602 CAGCGTG>C

Associated Papers

A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation.

Li L et al.

International Medical Case Reports Journal, 2025

40330118 (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."