Varaico: Literature-Extracted Genetic Variants

Gene:MRAP
Variant:p.Y11*
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MRAP

NM_001379228.1:p.Y11*

Associated Papers

Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.

Jain V et al.

European Journal of Endocrinology, 2011

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

Chan LF et al.

Hormone Research, 2008

The genetics of ACTH resistance syndromes.

Metherell LA et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2006

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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."