Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.V390V
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TSEN54

NM_207346.3:p.V390V

Associated Papers

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family.

Sepahvand A et al.

Molecular Genetics & Genomic Medicine, 2020

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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."