Varaico: Literature-Extracted Genetic Variants

Gene:SEPSECS
Variant:p.R234Splc
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SEPSECS

NM_016955.4:p.R234Splc

Associated Papers

Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation).

Pettinato F et al.

Biomedical Reports, 2025

Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene.

Rong T et al.

Frontiers in Pediatrics, 2021

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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."