Genetic & Genomic MedicineNature MedicinePeer-reviewed
Prevalence and expressivity of loss of function mutations in the Melanocortin 4 Receptor (MC4R) in a UK birth cohort
Kaitlin Hazel Wade, Brian Lam, Audrey Melvin…·Stephen O’Rahilly
The paper identifies the prevalence and phenotypic impact of loss of function mutations in the MC4R gene in a UK birth cohort, finding a 0.30% carrier rate with significant effects on body weight and BMI.
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