eP357: Molecular diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD) using optical genome mapping
Author(s) -
Naga Guruju,
Vanessa Jump,
Babi Ramesh Reddy Nallamilli,
Ephrem Chin,
Taraka Donti,
Suresh Shenoy,
Ryan Nara,
Zhiwen Luo,
Christin Collins,
Madhuri Hegde
Publication year - 2022
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1016/j.gim.2022.01.392
Subject(s) - facioscapulohumeral muscular dystrophy , muscular dystrophy , medicine , computational biology , genetics , biology
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