Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.R651*
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NR3C2

NM_000901.5:p.R651*

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_

Early genetic sequencing in neonates with hyperkalemia: a retrospective cross-sectional study.

Liang W et al.

Translational Pediatrics, 2025

[Hypercalcemia in patients with mutations in NR3C2 and SCNN1B].

Sainz de Los Terreros Errea A et al.

Medicina Clinica, 2023

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.

Petrikin JE et al.

Npj Genomic Medicine, 2018

30 YEARS OF THE MINERALOCORTICOID RECEPTOR: Mineralocorticoid receptor mutations.

Zennaro MC et al.

The Journal of Endocrinology, 2017

Clinical features and molecular basis of pseudohypoaldosteronism type 1.

Tajima T et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017

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

Hudson WH et al.

Plos One, 2014

Clinical and molecular analysis of six Japanese patients with a renal form of pseudohypoaldosteronism type 1.

Hatta Y et al.

Endocrine Journal, 2013

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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."