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Osaka, Hitoshi

Department of Pediatrics, Jichi Medical University, Tochigi, Japan

TitleYearPMID
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 2016 25966631
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. 2011 22036171
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