Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I57delFs
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MC4R

NM_005912.3:p.I57delFs

Associated Papers

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.

Collet TH et al.

Molecular Metabolism, 2017

29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.

Vollbach H et al.

International Journal of Obesity (2005), 2017

The human obesity gene map: the 2002 update.

Chagnon YC et al.

Obesity Research, 2003

Melanocortin 4 receptor sequence variations are seldom a cause of human obesity: the Swedish Obese Subjects, the HERITAGE Family Study, and a Memphis cohort.

Jacobson P et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.

Bayhaghi G et al.

Science Progress, 0

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