A Chromoanagenesis-Driven Ultra-Complex T(5;7;21)dn Truncates Neurodevelopmental Genes in a Disabled Boy As Revealed by Whole-Genome Sequencing.
European Journal of Medical Genetics（2022）
关键词
Whole-genome sequencing,Chromoanagenesis-related complex translocation,TRIO,MRD44,Neurodevelopmental disorders
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