TG c.3630dup ;(p.E1211*)

Variant ID: 8-133913793-G-GT

NM_003235.4(TG):c.3630dup;(p.E1211*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.

Npj Genomic Medicine
Loureiro, Livia O LO; Howe, Jennifer L JL; Reuter, Miriam S MS; Iaboni, Alana A; Calli, Kristina K; Roshandel, Delnaz D; Pritišanac, Iva I; Moses, Alan A; Forman-Kay, Julie D JD; Trost, Brett B; Zarrei, Mehdi M; Rennie, Olivia O; Lau, Lynette Y S LYS; Marshall, Christian R CR; Srivastava, Siddharth S; Godlewski, Brianna B; Buttermore, Elizabeth D ED; Sahin, Mustafa M; Hartley, Dean D; Frazier, Thomas T; Vorstman, Jacob J; Georgiades, Stelios S; Lewis, Suzanne M E SME; Szatmari, Peter P; Bradley, Clarrisa A Lisa CAL; Tabet, Anne-Claude AC; Willems, Marjolaine M; Lumbroso, Serge S; Piton, Amélie A; Lespinasse, James J; Delorme, Richard R; Bourgeron, Thomas T; Anagnostou, Evdokia E; Scherer, Stephen W SW
Publication Date: 2021-11-04

Variant appearance in text: TG: 3630dup
PubMed Link: 34737294
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_254.pdf
View BVdb publication page