Whole exome sequencing identifies novel DYT1 dystonia-associated genome variants as potential disease modifiers
Chih-Fen Hu, G. W. Gant Luxton, Feng-Chin Lee, Chi‐Hsin Hsu, Shih‐Ming Huang, Jau‐Shyong Hong, San‐Pin Wu
The paper identifies novel genome variants associated with DYT1 dystonia through whole exome sequencing and suggests they may modify disease penetrance.
bioRxiv · Mar 15, 2020 · PreprintGenetics