Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S330_S331insFs
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AVPR2

NM_000054.7:p.S330_S331insFs

Associated Papers

Novel AVPR2 variant in a male infant with nephrogenic diabetes insipidus who showed delayed head control.

Hasegawa K et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 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."