Varaico: Literature-Extracted Genetic Variants

Gene:NR3C2
Variant:p.V281L
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NR3C2

NM_000901.5:p.V281L

Associated Papers

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.

Claahsen-van der Grinten HL et al.

Endocrine Reviews, 2022

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Kocova M et al.

Endocrine, 2020

Prenatal treatment of congenital adrenal hyperplasia-not standard of care.

Witchel SF et al.

Journal of Genetic Counseling, 2012

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

White PC et al.

Endocrine Reviews, 2000

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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."