Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.I74delFs
Back to variants list

AVPR2

NM_000054.7:p.I74delFs

Associated Papers

A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family.

Saglar E et al.

Endocrine, 2014

A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.

Abaci A et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."