A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
一项针对KDM5B相关疾病的基因型/表型研究表明，显性遗传的错义变异具有致病作用
期刊:Genes
影响因子:2.8
doi:10.3390/genes15081033
Borroto, Maria Carla; Michaud, Coralie; Hudon, Chloé; Agrawal, Pankaj B; Agre, Katherine; Applegate, Carolyn D; Beggs, Alan H; Bjornsson, Hans T; Callewaert, Bert; Chen, Mei-Jan; Curry, Cynthia; Devinsky, Orrin; Dudding-Byth, Tracy; Fagan, Kelly; Finnila, Candice R; Gavrilova, Ralitza; Genetti, Casie A; Hiatt, Susan M; Hildebrandt, Friedhelm; Wojcik, Monica H; Kleefstra, Tjitske; Kolvenbach, Caroline M; Korf, Bruce R; Kruszka, Paul; Li, Hong; Litwin, Jessica; Marcadier, Julien; Platzer, Konrad; Blackburn, Patrick R; Reijnders, Margot R F; Reutter, Heiko; Schanze, Ina; Shieh, Joseph T; Stevens, Cathy A; Valivullah, Zaheer; van den Boogaard, Marie-José; Klee, Eric W; Campeau, Philippe M
