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Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX
Moey, Ching, Topper, Scott, Karn, Mary, Johnson, Amy Knight, Das, Soma, Vidaurre, Jorge, Shoubridge, CherylLanguage:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2015.176
Date:
August, 2015
File:
PDF, 3.02 MB
english, 2015