A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy - Sedláčková, Lucie; Štěrbová, Katalin; Vlčková, Markéta; Maulisová, Alice; Laššuthová, Petra (American journal of medical genetics. Part A, 2021)
Keywords: 14-3-3 Proteins - genetics; Brain Diseases; Encephalopathy; Epilepsy; Genetic Association Studies; Heterozygote; Humans; Mutation, Missense; Phenotype; Phenotypes