GeneticsHuman Genetics and Genomics AdvancesPeer-reviewed
Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity
Joery den Hoed, Fleur Semmekrot, Jolijn J. A. Verseput…·Simon E. Fisher
This study functionally characterizes SATB2 missense variants to identify distinct effects on chromatin binding and transcriptional activity, revealing partial loss-of-function and some variants with increased function.
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