Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.L772*
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NR3C2

NM_000901.5:p.L772*

Associated Papers

Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.

Kanda K et al.

Bmc Nephrology, 2009

Functional characterization of naturally occurring NR3C2 gene mutations in Italian patients suffering from pseudohypoaldosteronism type 1.

Balsamo A et al.

European Journal of Endocrinology, 2007

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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."