Varaico: Literature-Extracted Genetic Variants

Gene:TSEN54
Variant:p.P318Q
Back to variants list

TSEN54

NM_207346.3:p.P318Q

Associated Papers

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

Sekulovski S et al.

Nature Communications, 2021

34584079 (PubMed )
Supplement: 41467_2021_25870_MOESM1_ESM.pdf

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y et al.

Brain : a Journal of Neurology, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."