P476: Identification and accurate sizing of D4Z4 repeat units in patients suspected of facioscapulohumeral muscular dystrophy (FSHD) using optical genome mapping*

Autor: Guruju, Naga, Jump, Vanessa, Nallamilli, Babi, Liu, Ruby, Luo, Zhiwen, Hegde, Madhuri
Zdroj: In Genetics in Medicine Open 2023 1(1) Supplement
Databáze: ScienceDirect