Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.P3866A
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BSN

NM_003458.4:p.P3866A

Associated Papers

CRISPR-edited iPSCs reveal BSN gene mutations induce neuronal hyperexcitability via astrocyte lipid accumulation.

Chen H et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025

Pathological study of progressive supranuclear palsy the cases with mutations in Bassoon.

Wakita M et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025

Bassoon, Presynaptic Scaffolding Protein: Narrative Review in Health and Disease.

Kaladiyil AP et al.

The European Journal of Neuroscience, 2025

Behavioral and histological analyses of the mouse Bassoon p.P3882A mutation corresponding to the human BSN p.P3866A mutation.

Tanaka D et al.

Frontiers in Neuroscience, 2024

Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome.

Yabe I et al.

Scientific Reports, 2018

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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."