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 |
Externí odkaz: |