Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.A218fs
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MC2R

NM_000529.2:p.A218fs

Associated Papers

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Janssen AEJ et al.

Nature Communications, 2024

39223156 (PubMed )
Supplement: 41467_2024_51508_MOESM6_ESM.xlsx › SuppTable10

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
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