An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.

Emma Price,Liron M Fedida,Elena M Pugacheva, Yon J Ji,Dmitri Loukinov,Victor V Lobanenkov

Frontiers in molecular neuroscience（2023）

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摘要

From this integrated analysis, we provide a comprehensive and annotated catalog of all currently known mutations associated with NDD phenotypes, to aid diagnostic applications, as well as translational and basic research.

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ctcf variants

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