Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.A126S
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MC2R

NM_000529.2:p.A126S

Associated Papers

A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.

Mohammed I et al.

Journal of the Endocrine Society, 2022

The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.

Heshmatzad K et al.

International Journal of Endocrinology, 2020

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.

Chung TT et al.

Clinical Endocrinology, 2010

A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency.

Artigas RA et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."