Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.S180*
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MC2R

NM_000529.2:p.S180*

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

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.

Chan LF et al.

Clinical Endocrinology, 2009

Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.

Chan LF et al.

Hormone Research, 2008

Adrenocorticotropin resistance syndromes.

Cooray SN et al.

Endocrine Development, 2008

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action.

Clark AJ et al.

Trends in Endocrinology and Metabolism: Tem, 2005

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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."