Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.M255delFs
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MC2R

NM_000529.2:p.M255delFs

Associated Papers

Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene.

Maleknejad S et al.

International Journal of Endocrinology, 2024

Novel Melano-Cortin-2-Receptor Gene Mutation Presenting With Infantile Cholestasis: A Case Report.

Alsaedi A et al.

Clinical Medicine Insights. Case Reports, 2022

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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."