Search results for PLEC

Gene symbol Genotype Mutation consequence Disease Panels Go to page
PLEC biallelic loss of function MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q DD
PLEC biallelic loss of function Epidermolysis Bullosa Simplex + muscular dystrophy Skin
PLEC monoallelic all missense/in frame Epidermolysis Bullosa Simplex (Ogna) Skin