Varaico: Literature-Extracted Genetic Variants

Gene:SPTAN1
Variant:p.S324fs
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SPTAN1

NM_001130438.3:p.S324fs

Associated Papers

Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration.

Riva A et al.

Current Neurology and Neuroscience Reports, 2025

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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."