Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.S805P
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NR3C2

NM_000901.5:p.S805P

Associated Papers

Clinical and Biochemical Characteristics of Pseudohypoaldosteronism Type 1 with and Without Genetic Mutations: A Literature Review.

Nakata Y et al.

Journal of Clinical Medicine, 2025

40648780 (PubMed )
Supplement: jcm-14-04408-s001.zip › supplementary_file › supplementary_table_2__MR_group_.xlsx › MR_group_n_88_

Phenotypic diversity and correlation with the genotypes of pseudohypoaldosteronism type 1.

Gopal-Kothandapani JS et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

Zennaro MC et al.

The Journal of Endocrinology, 2017

Molecular pathogenesis of renal pseudohypoaldosteronism type 1.

Riepe FG

Expert Review of Endocrinology & Metabolism, 2007

Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism.

Pujo L et al.

Human Mutation, 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."