Bi-allelic Loss-of-function Variants in BCAS3 Cause a Syndromic Neurodevelopmental Disorder
The American Journal of Human Genetics（2021）
关键词
BCAS3,proteomics,transcriptomics,neurodevelopmental disorder,global developmental delay,pyramidal tract involvement,thin corpus callosum,microcephaly,UAS-Gal4,fibroblasts
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