Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.E85V
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TSEN54

NM_207346.3:p.E85V

Associated Papers

New insights into RNA processing by the eukaryotic tRNA splicing endonuclease.

Hayne CK et al.

The Journal of Biological Chemistry, 2023

Structural basis of substrate recognition by human tRNA splicing endonuclease TSEN.

Sekulovski S et al.

Nature Structural & Molecular Biology, 2023

A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.

Qian Y et al.

Molecular Medicine Reports, 2014

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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."