Varaico: Literature-Extracted Genetic Variants

Gene:TOE1
Variant:p.D64A
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TOE1

NM_025077.4:p.D64A

Associated Papers

Biochemical characterizations of Pontocerebellar Hypoplasia linked mutations of Target of Egr1 (TOE1) reveal impacts on thermal stability, ribonuclease activity, and oligomerization.

Zavala L et al.

Biorxiv : the Preprint Server for Biology, 2025

The PARN, TOE1, and USB1 RNA deadenylases and their roles in non-coding RNA regulation.

Huynh TN et al.

The Journal of Biological Chemistry, 2023

TOE1 acts as a 3' exonuclease for telomerase RNA and regulates telomere maintenance.

Deng T et al.

Nucleic Acids Research, 2019

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