A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.
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Ann Clin Transl Neurol. 2020 Sep;7(9):1574-1579. doi: 10.1002/acn3.51131. Epub 2020 Aug 15.
Ann Clin Transl Neurol. 2020.
PMID: 33245593
Free PMC article.