Varaico: Literature-Extracted Genetic Variants

Gene:CERS1
Variant:p.R255C
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CERS1

NM_021267.5:p.R255C

Associated Papers

Individual lipid alterations at the origin of neuronal Ceramide Synthase defects.

Ziegler AB et al.

Plos Genetics, 2025

Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia.

Godeiro Junior CO et al.

Movement Disorders Clinical Practice, 0

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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."