TSC2 c.3725dup ;(p.E1243Gfs*79)

Variant ID: 16-2131708-C-CA

NM_000548.3(TSC2):c.3725dup;(p.E1243Gfs*79)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Acta Neuropathologica
Baldassari, Sara S; Ribierre, Théo T; Marsan, Elise E; Adle-Biassette, Homa H; Ferrand-Sorbets, Sarah S; Bulteau, Christine C; Dorison, Nathalie N; Fohlen, Martine M; Polivka, Marc M; Weckhuysen, Sarah S; Dorfmüller, Georg G; Chipaux, Mathilde M; Baulac, Stéphanie S
Publication Date: 2019-12

Variant appearance in text: TSC2: 3725dupA; Glu1243fs
PubMed Link: 31444548
Variant Present in the following documents:
  • Main text
  • 401_2019_Article_2061.pdf
View BVdb publication page