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Unusual features in a boy with the rapsyn N88K mutation
UploadRisk of developing a mitochondrial DNA deletion disorder
UploadA novel point mutation in the mitochondrial tRNATrp gene produces a neurogastrointestinal syndrome
Download from www.nature.comHashimoto’s encephalopathy: a treatable cause of mental impairment, stroke and seizures
Download from api.wiley.comPhenotype modulators in myophosphorylase deficiency.
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