Journal Club

Journal Club

Moritz Hebebrand stellt vor: "Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity"

Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR. (2018). Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity. Am J Hum Genet. 102:1062-1077.