F. L. Harms

De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.

SRSF3 (SRp20), a member of the serine/arginine-rich protein family of splicing factors, plays a central role in constitutive and alternative splicing. The C-terminal arginine/serine-rich domain of SRSF3 undergoes dynamic phosphorylation cycles that regulate its subcellular localization, protein-protein interactions, an...