Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.G3627V
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BSN

NM_003458.4:p.G3627V

Associated Papers

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

Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.

Moon CM et al.

Inflammatory Bowel Diseases, 2018

29733354 (PubMed )
Supplement: izy122_suppl_supporting_data.pdf

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."