关键词: 15q13.3 microdeletion syndrome CHRNA7 OTUD7A
Mesh : Animals Caenorhabditis elegans / genetics Child, Preschool Deubiquitinating Enzymes / genetics Frameshift Mutation / genetics Homozygote Humans Intellectual Disability / complications genetics physiopathology Loss of Heterozygosity / genetics Male Muscle Contraction / genetics physiology Muscle Hypotonia / genetics physiopathology Neuromuscular Junction Diseases / complications embryology genetics physiopathology Seizures / complications genetics physiopathology Thiolester Hydrolases / genetics
来 源:
DOI:10.1002/ajmg.a.62054
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