Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.D107G
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MC2R

NM_000529.2:p.D107G

Associated Papers

The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.

Heshmatzad K et al.

International Journal of Endocrinology, 2020

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

Aza-Carmona M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011

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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."