Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.F119fs
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MC2R

NM_000529.2:p.F119fs

Associated Papers

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.

Selva KA et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004

Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.

Flück CE et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Isolated glucocorticoid deficiency and ACTH receptor mutations.

Tsigos C

Archives of Medical Research, 0

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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."