Article
Phenotypic complexities of rare heterozygous neurexin-1 deletions.
Nature - 1 Jun 2025
Fernando Michael B, Fan Yu, Zhang Yanchun, Tokolyi Alex, Murphy Aleta N, Kammourh Sarah, Deans P J Michael, Ghorbani Sadaf, Onatzevitch Ryan, Pero Adriana, Padilla Christopher, Williams Sarah E, Flaherty Erin K, Prytkova Iya A, Cao Lei, Knowles David A, Fang Gang, Slesinger Paul A, Brennand Kristen J
Abstract excerpt
Given the large number of genes significantly associated with risk for neuropsychiatric disorders, a critical unanswered question is the extent to which diverse mutations-sometimes affecting the same gene-will require tailored therapeutic strategies. Here we consider this in the context of rare neuropsychiatric disorder-associated copy number variants (2p16.3) resulting in heterozygous deletions in NRXN1, which...
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