Varaico: Literature-Extracted Genetic Variants

Gene:PIGB
Variant:p.L378F
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PIGB

NM_004855.5:p.L378F

Associated Papers

Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants.

Alizadeh P et al.

Practical Laboratory Medicine, 2025

A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.

Aguech A et al.

Metabolic Brain Disease, 2023

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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."