Varaico: Literature-Extracted Genetic Variants

Gene:SPTAN1
Variant:p.K30R
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SPTAN1

NM_001130438.3:p.K30R

Associated Papers

Phenotypic and molecular characterization of a recurrent SPTAN1 mutation causing SPG91.

Lan SC et al.

Molecular Biology Reports, 2025

Longitudinal neurodevelopmental profile of a pediatric patient with de novo SPTAN1, epilepsy, and left hippocampal sclerosis.

Luongo-Zink C et al.

Epilepsy & Behavior Reports, 2022

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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."