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Article

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

21 Oct 2023

Abstract excerpt

Bassoon (BSN) is a component of a hetero-dimeric presynaptic cytomatrix protein that orchestrates neurotransmitter release with Piccolo (PCLO) from glutamatergic neurons throughout the brain. Heterozygous missense variants in BSN have previously been associated with neurodegenerative disorders in humans. We performed an exome-wide association analysis of ultra-rare variants in about 140,000 unrelated individuals...

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PMID: 37865656
DOI: 10.1038/s41525-023-00376-7

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