First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene
Titel:
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene
Auteur:
Perera, B. Lakshitha A. Stewart, Russell Furuta, Yutaka Ezell, Kimberly M. Rives, Lynette Nunley, Bethany McMinn, Ashley Krokosky, Alyson Neumann, Serena Koziura, Mary E. , Hamid, Rizwan Cogan, Joy D. Cassini, Thomas A. Gamazon, Eric R. Phillips III, John A. Tinker, Rory J.