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
Details bioRxiv. May 05, 2021
DOI 10.1101/2021.05.01.21256144
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Jill Bouchard
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Jill Bouchard
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And this mutation is predicted to reduce phase separation propensity.