Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.N483delFs
Back to variants list

NR3C2

NM_000901.5:p.N483delFs

Associated Papers

Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review.

Gao Z et al.

Archives of Endocrinology and Metabolism, 2023

[Mineralocorticoid resistance: pseudohypoaldosteronism type 1].

Fernandes-Rosa FL et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2007

Systemic pseudohypoaldosteronism from deletion of the promoter region of the human Beta epithelial na(+) channel subunit.

Thomas CP et al.

American Journal of Respiratory Cell and Molecular Biology, 2002

Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel.

Schaedel C et al.

The Journal of Pediatrics, 1999

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."