Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Autor: Seifert, Bryce A., Reddi, Honey V., Kang, Benjamin E., Bean, Lora J.H., Shealy, Amy, Rose, Nancy C.
Zdroj: In Genetics in Medicine August 2024 26(8)
Databáze: ScienceDirect