Genomic and biological panoramas of non-muscle actinopathies
Nataliya Di Donato, Andrew Thom, Andreas Rump, Johannes N. Greve, Marcus Kropp, Juan Cadiñanos, Salvatore Calabro, Sara S. Cathey, Brian Hon‐Yin Chung, Heidi Cope, María Costales, Sara Cuvertino, Philine Dinkel, Kalliopi Erripi, Andrew E. Fry, , Siddharth Banka
The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.
medRxiv · Aug 21, 2024 · PreprintGenetic & Genomic Medicine