SMN1 c.157_158delinsTT ;(p.A53F)

Variant ID: 5-70237219-GC-TT

NM_000344.3(SMN1):c.157_158delinsTT;(p.A53F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Motor hyperactivation during cognitive tasks: An endophenotype of juvenile myoclonic epilepsy.

Epilepsia
Caciagli, Lorenzo L; Wandschneider, Britta B; Centeno, Maria M; Vollmar, Christian C; Vos, Sjoerd B SB; Trimmel, Karin K; Long, Lili L; Xiao, Fenglai F; Lowe, Alexander J AJ; Sidhu, Meneka K MK; Thompson, Pamela J PJ; Winston, Gavin P GP; Duncan, John S JS; Koepp, Matthias J MJ
Publication Date: 2020-07

Variant appearance in text: SMA: A53F
PubMed Link: 32584424
Variant Present in the following documents:
  • Main text
View BVdb publication page