Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts

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Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) Pranesh Chakraborty, Klaus Schmitz‐Abe, Erin K. Kennedy, Blood	2014	176
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