Varaico: Literature-Extracted Genetic Variants

Gene:PDE12
Variant:p.E351A
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PDE12

NM_177966.7:p.E351A

Associated Papers

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

Hathazi D et al.

The Embo Journal, 2020

Maturation of selected human mitochondrial tRNAs requires deadenylation.

Pearce SF et al.

Elife, 2017

PDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondria.

Rorbach J et al.

Nucleic Acids Research, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."