Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.E972G
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NR3C2

NM_000901.5:p.E972G

Associated Papers

A novel frameshift mutation in NR3C2 leads to decreased expression of mineralocorticoid receptor: a family with renal pseudohypoaldosteronism type 1.

Kawashima Sonoyama Y et al.

Endocrine Journal, 2017

Molecular pathogenesis of renal pseudohypoaldosteronism type 1.

Riepe FG

Expert Review of Endocrinology & Metabolism, 2007

Elucidating the underlying molecular pathogenesis of NR3C2 mutants causing autosomal dominant pseudohypoaldosteronism type 1.

Riepe FG et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Development and Diseases of the Collecting Duct System.

Chen L et al.

Results and Problems in Cell Differentiation, 0

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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."