TSC2 c.2771_2772del ;(p.F924*)

Variant ID: 16-2126517-CTT-C

NM_000548.3(TSC2):c.2771_2772del;(p.F924*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background.

Italian Journal Of Pediatrics
Savini, M N MN; Mingarelli, A A; Peron, A A; La Briola, F F; Cervi, F F; Alfano, R M RM; Canevini, M P MP; Vignoli, A A
Publication Date: 2020-03-27

Variant appearance in text: TSC2: 2771_2772del; Phe924*
PubMed Link: 32216820
Variant Present in the following documents:
  • Main text
  • 13052_2020_Article_801.pdf
View BVdb publication page