Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.E1108*
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BSN

NM_003458.4:p.E1108*

Associated Papers

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

Kaladiyil AP et al.

The European Journal of Neuroscience, 2025

Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.

Guzman SG et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Variants in BSN gene associated with epilepsy with favourable outcome.

Ye T et al.

Journal of Medical Genetics, 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."