Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.S93P
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TSEN54

NM_207346.3:p.S93P

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

What connects splicing of transfer RNA precursor molecules with pontocerebellar hypoplasia?

Sekulovski S et al.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2023

Recent insights into the structure, function, and regulation of the eukaryotic transfer RNA splicing endonuclease complex.

Hayne CK et al.

Wiley Interdisciplinary Reviews. Rna, 2022

Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia.

Sekulovski S et al.

Nature Communications, 2021

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Namavar Y et al.

Orphanet Journal of Rare Diseases, 2011

TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Namavar Y et al.

European Journal of Human Genetics : Ejhg, 2011

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y et al.

Brain : a Journal of Neurology, 2011

Mutations in the tRNA splicing endonuclease complex cause pontocerebellar hypoplasia.

Bailey KA et al.

Clinical Genetics, 2009

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS et al.

Nature Genetics, 2008

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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."