Uniquely high spontaneous mutational load in blood cells of XP-C patients
Gordon Fan-Huang, Elizabeth L. Schmidt, Moonsook Lee, Shixiang Sun, Christina L. Boull, Sheilagh Maguiness, Jan Vijg, Laura J. Niedernhofer, Alexander Y. Maslov
The paper identifies a high spontaneous mutational load in PBMCs of XP-C patients, linked to specific mutation signatures and replication-dependent mutagenesis.
bioRxiv · Jul 16, 2025 · PreprintGenomics