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A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.
Biomedicines. 2022 Dec 7;10(12):3171. doi: 10.3390/biomedicines10123171.
Biomedicines. 2022.
PMID: 36551928
Free PMC article.
Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo.
Pajak A, Laine I, Clemente P, El-Fissi N, Schober FA, Maffezzini C, Calvo-Garrido J, Wibom R, Filograna R, Dhir A, Wedell A, Freyer C, Wredenberg A.
Pajak A, et al.
PLoS Genet. 2019 Jul 31;15(7):e1008240. doi: 10.1371/journal.pgen.1008240. eCollection 2019 Jul.
PLoS Genet. 2019.
PMID: 31365523
Free PMC article.
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