Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.R652*
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NR3C2

NM_000901.5:p.R652*

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

Crystal structure of the mineralocorticoid receptor DNA binding domain in complex with DNA.

Hudson WH et al.

Plos One, 2014

Pseudohypoaldosteronisms, report on a 10-patient series.

Belot A et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008

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."