Varaico: Literature-Extracted Genetic Variants

Gene:TSEN15
Variant:p.Y152C
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TSEN15

NM_052965.4:p.Y152C

Associated Papers

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

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Breuss MW et al.

American Journal of Human Genetics, 2016

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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."