A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) is genetically complex with ~100 copy number variants and genes involved. To try to establish more definitive genotype and phenotype correlations in ASD, we searched genome sequence data, and the literature, for recurrent predicted damaging sequence-level variants affe...

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Detalles Bibliográficos
Autores principales: Loureiro, Livia O., Howe, Jennifer L., Reuter, Miriam S., Iaboni, Alana, Calli, Kristina, Roshandel, Delnaz, Pritišanac, Iva, Moses, Alan, Forman-Kay, Julie D., Trost, Brett, Zarrei, Mehdi, Rennie, Olivia, Lau, Lynette Y. S., Marshall, Christian R., Srivastava, Siddharth, Godlewski, Brianna, Buttermore, Elizabeth D., Sahin, Mustafa, Hartley, Dean, Frazier, Thomas, Vorstman, Jacob, Georgiades, Stelios, Lewis, Suzanne M. E., Szatmari, Peter, Bradley, Clarrisa A. (Lisa), Tabet, Anne-Claude, Willems, Marjolaine, Lumbroso, Serge, Piton, Amélie, Lespinasse, James, Delorme, Richard, Bourgeron, Thomas, Anagnostou, Evdokia, Scherer, Stephen W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8568906/
https://www.ncbi.nlm.nih.gov/pubmed/34737294
http://dx.doi.org/10.1038/s41525-021-00254-0

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