A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
Authors | Livia O Loureiro, Jennifer L Howe, Miriam Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritisanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Lau, Christian R Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne ME Lewis, Peter Szatmari, Lisa Bradley, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer |
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Details | bioRxiv. May 05, 2021 |
DOI | 10.1101/2021.05.01.21256144 |
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Source | View on BioRxiv |
And this mutation is predicted to reduce phase separation propensity.