Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.A218insFs
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MC2R

NM_000529.2:p.A218insFs

Associated Papers

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

Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency.

Wu SM et al.

Molecular Genetics and Metabolism, 1998

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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."