De novo variants in MPP5 cause global developmental delay and behavioral changes
MPP5基因的新生突变会导致全面发育迟缓和行为改变。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddaa224
Sterling, Noelle; Duncan, Anna R; Park, Raehee; Koolen, David A; Shi, Jiahai; Cho, Seo-Hee; Benke, Paul J; Grant, Patricia E; Genetti, Casie A; VanNoy, Grace E; Juusola, Jane; McWalter, Kirsty; Parboosingh, Jillian S; Lamont, Ryan E; Bernier, Francois P; Smith, Christopher; Harris, David J; Stegmann, Alexander P A; Innes, A Micheil; Kim, Seonhee; Agrawal, Pankaj B