Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.P509R
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NR3C2

NM_000901.5:p.P509R

Associated Papers

Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity.

Riepe FG et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism.

Arai K et al.

Human Genetics, 2003

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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."