Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.T131A
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MC2R

NM_000529.2:p.T131A

Associated Papers

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.

Abuduxikuer K et al.

Frontiers in Endocrinology, 2019

Mechanisms of melanocortin-2 receptor (MC2R) internalization and recycling in human embryonic kidney (hek) cells: identification of Key Ser/Thr (S/T) amino acids.

Roy S et al.

Molecular Endocrinology (baltimore, Md.), 2011

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