De Novo and Bi-Allelic Variants in AP1G1 Cause Neurodevelopmental Disorder with Developmental Delay, Intellectual Disability, and Epilepsy.
The American Journal of Human Genetics（2021）
关键词
intellectual disabilities,neurodevelopment disorder,AP1G1,AP-1 complex,epilepsy,developmental delay,exome sequencing,Pakistani families,genetic heterogeneity
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