机译:TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
Med & Mol Genet,Indiana Univ Sch Med;
Ctr Individualized Med,Mayo Clin;
Coll Med,Univ FloridaGeneDxDept Mol & Human Genet,Baylor Coll MedDept Pediat,Duke UnivHarvard UnivMed Ctr,Radboud Univ NijmegenDept Pediat Neurol,Radboud Univ NijmegenUniv Med Ctr Groningen,Univ GroningenDept Genet,Radboud Univ NijmegenHouston Area Pediat NeurolDept Pediat Neurol,Riley Hosp ChildrenCtr Human Genet,Univ Hosp LeuvenDept Human Genet,Univ LeuvenMol Neurosci,UCL Great Ormond St Inst Child HlthTY Nelson Dept Neurol & Neurosurg,Childrens Hosp WestmeadDept Genet,Univ Med Ctr UtrechtDept Pediat,Univ MississippiServ Genet Med,Ctr Hosp Univ CHU NantesPhoenix Childrens Hosp;
NUCLEAR-IMPORT; DE-NOVO; MUSHROOM BODY; GAL4 SYSTEM; C-FOS; TRANSPORTIN; MUTATIONS; PROTEINS; COMPLEX; EXPRESSION;