Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.R212insFs
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MC2R

NM_000529.2:p.R212insFs

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

32952553 (PubMed )
Supplement: 2190508.f1.docx

Neonatal hyperpigmentation: diagnosis of familial glucocorticoid deficiency with a novel mutation in the melanocortin-2 receptor gene.

Jacoby E et al.

Pediatric Dermatology, 0

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