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
Topics
Keywords
Source View on BioRxiv

1
Join the conversation

Create an Account or Sign In to comment.
1 Comment threads
0 Thread replies
1 Followers
 
Most reacted comment
Hottest comment thread
1 Comment authors
Jill Bouchard Recent comment authors
newest oldest most voted
Jill Bouchard
Admin
Jill Bouchard
Editor in Chief, Condensates.com

And this mutation is predicted to reduce phase separation propensity.