Introduction: Intellectual disability (ID) is a lifelong disability that affects an individual’s learning capacity and adaptive behavior. Such individuals depend on their families for day-to-day surv

NIAID Data Ecosystem40

Additional file 2 of Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

神经发育障碍遗传学

基因发现与功能分析

Additional file 2: Table S1. Summary of explaining and response variables in the regression analyses. Table S2. Summary of models for relative number of < 1 Mb LOF CNV per gene. Table S3. Mutation

Figshare2022-04-26 更新70

Oligo array for CNV calling AUTS2 project [Agilent]. Homo sapiens

拷贝数变异分析

神经发育障碍遗传学

Phenotypic and genotypic description of AUTS2 deletion patients found by Array analysis in an international cohort of intellectual disability (ID) and multiple congenital malformations (MCA). Overall

NIAID Data Ecosystem40

Prevalence of 15q11-q13 duplications in disease and control cohorts.

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