Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.H3Y
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MC2R

NM_000529.2:p.H3Y

Associated Papers

Association of SCN1A gene polymorphisms with infantile spasms and adrenocorticotropic hormone responsiveness.

Zhang Y et al.

European Review for Medical and Pharmacological Sciences, 2014

Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms.

Liu ZL et al.

Chinese Medical Journal, 2008

ACTH receptor promoter polymorphism associates with severity of premature adrenarche and modulates hypothalamo-pituitary-adrenal axis in children.

Lappalainen S et al.

Pediatric Research, 2008

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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."