Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain
James L. Shepherdson, David M. Granas, Jie Li, Zara Shariff, Stephen P. Plassmeyer, Alex S. Holehouse, Michael A. White, Barak A. Cohen
The paper performs a deep mutational scan of CRX variants to classify clinical variants and reveals biochemical properties of the transcriptional effector domain.
Genome Research · Oct 1, 2024Peer-reviewedGenomics