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Article

Phenotypic diversity is caused by non-linear genetic interactions between two SNAREopathy genes.

Molecular psychiatry - 1 Jul 2026

Kovačević Jovana, Houy Sébastien, Pires Johny, Kádková Anna, Li Zhen, Lammertse Hanna C A, Martins Joana S, Öttl Miriam, Wierda Keimpe, Wortel Joke, Sørensen Jakob B, Verhage Matthijs

Abstract excerpt

Brain disorders caused by large effect mutations in single genes often present unexplained large symptom diversity, even among carriers of the same mutation. Here we examined genetic interactions as a possible explanation for this diversity for SNAREopathies, a group of common neurodevelopmental disorders caused by de novo genetic variation in genes that together drive secretion of chemical signals in the brain....

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PMID: 41781723
DOI: 10.1038/s41380-026-03509-3
PMCID: PMC13268963

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