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Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism

As expansions of CGG short tandem repeats (STRs) are established as the genetic etiology of many neurodevelopmental disorders, we aimed to elucidate the inheritance patterns and role of CGG STRs in autism-spectrum disorder (ASD). By genotyping 6063 CGG STR loci in a large cohort of trios and quads w...

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Detalles Bibliográficos
Autores principales: Annear, Dale J., Vandeweyer, Geert, Sanchis-Juan, Alba, Raymond, F. Lucy, Kooy, R. Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808627/
https://www.ncbi.nlm.nih.gov/pubmed/36351771
http://dx.doi.org/10.1101/gr.277011.122