Varaico: Literature-Extracted Genetic Variants

Gene:BSN
Variant:p.Q2451*
Back to variants list

BSN

NM_003458.4:p.Q2451*

Associated Papers

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

Guzman SG et al.

American Journal of Human Genetics, 2025

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

Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity.

Zhu N et al.

Npj Genomic Medicine, 2023

37865656 (PubMed )
Supplement: 41525_2023_376_MOESM1_ESM.pdf

Variants in BSN gene associated with epilepsy with favourable outcome.

Ye T et al.

Journal of Medical Genetics, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."