Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.S818L
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NR3C2

NM_000901.5:p.S818L

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_

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

Zennaro MC et al.

The Journal of Endocrinology, 2017

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_early_met_1

Clinical and molecular features of type 1 pseudohypoaldosteronism.

Riepe FG

Hormone Research, 2009

Molecular pathogenesis of renal pseudohypoaldosteronism type 1.

Riepe FG

Expert Review of Endocrinology & Metabolism, 2007

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].

Fernandes-Rosa FL et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 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

Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults.

Geller DS et al.

Journal of the American Society of Nephrology : Jasn, 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."