Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology

Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology

Abstract The NRXN1 locus is a hotspot for non-recurrent copy number variants and exon-disrupting NRXN1 deletions have been associated with increased risk of neurodevelopmental disorders in case-control studies. However, corresponding population-based estimates of prevalence and disease-associated ri...

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Main Authors: Simone Montalbano, Morten Dybdahl Krebs, Anders Rosengren, Morteza Vaez, Kajsa-Lotta Georgii Hellberg, Preben B. Mortensen, Anders D. Børglum, Daniel H. Geschwind, iPSYCH Investigators, Armin Raznahan, Wesley K. Thompson, Dorte Helenius, Thomas Werge, Andrés Ingason
Format: Article
Language:English
Published: Nature Portfolio 2024-12-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-024-00450-8
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https://doi.org/10.1038/s41525-024-00450-8

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