@misc{indiciae256cebb1587c,
  title = {First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.},
  author = {B Lakshitha A Perera and Russell Stewart and Yutaka Furuta and Kimberly M Ezell and Lynette Rives and Bethany Nunley and Ashley McMinn and Alyson Krokosky and Serena Neumann and Mary E Koziura and Undiagnosed Diseases Network and Rizwan Hamid and Joy D Cogan and Thomas A Cassini and Eric R Gamazon and John A Phillips Iii and Rory J Tinker},
  year = {2025},
  doi = {10.1007/s10048-025-00835-6},
  url = {https://pubmed.ncbi.nlm.nih.gov/40788430/},
  note = {Source identifier: 40788430}
}