Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.I118fs
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MC2R

NM_000529.2:p.I118fs

Associated Papers

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

Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype.

Elias LL et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

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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."