A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
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DOI: 10.1002/acn3.51131
Abstract: To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. read more here.
Keywords: hypomorphic splice; novel hypomorphic; eif2b5 gene; splice variant ... See more keywords