Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome.
Brain & development（2023）
摘要
Our research provided further support for WGS application in CSS diagnosis and made an investigational approach for the underlying mechanisms of CSS.
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关键词
Coffin-Siris syndrome, Whole-genome sequencing, Copy number variants, RNA-seq
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