Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.V49L
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MC2R

NM_000529.2:p.V49L

Associated Papers

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

Chung TT et al.

Clinical Endocrinology, 2010

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

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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."