TSC1 c.362A>T ;(p.K121M)

Variant ID: 9-135800975-T-A

NM_000368.4(TSC1):c.362A>T;(p.K121M)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Brain-Responsive Neurostimulation for the treatment of adults with epilepsy in tuberous sclerosis complex: A case series.

Epilepsia Open
McDermott, Danielle S DS; Mirro, Emily A EA; Fetrow, Kirsten K; Burdette, David E DE; Chen, Stephanie S; Hopp, Jennifer J; Masel, Todd T; Johnson, Emily A EA; Elefant, Felicia M K FMK; Le, Scheherazade S; Patra, Sanjay E SE; Brown, Mesha-Gay MG; Haneef, Zulfi Z
Publication Date: 2021-06

Variant appearance in text: TSC1: Lys121Met
PubMed Link: 34033253
Variant Present in the following documents:
  • Main text
  • EPI4-6-419.pdf
View BVdb publication page