Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

Overview of attention for article published in BMC Medical Genomics, August 2019

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Coumpound heterozygous TWNK #mutations https://t.co/mZtL02tjNZ identified via #exome sequencing in infant with #hepatocerebral form of #mitochondrial DNA depletion #syndrome https://t.co/RH2HUc90A9

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