ATM c.3115_3116inv ;(p.R1039L)

Variant ID: 11-108143296-AG-CT

NM_000051.3(ATM):c.3115_3116inv;(p.R1039L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.

Acta Neuropathologica
Stone, Thomas J TJ; Keeley, Angus A; Virasami, Alex A; Harkness, William W; Tisdall, Martin M; Izquierdo Delgado, Elisa E; Gutteridge, Alice A; Brooks, Tony T; Kristiansen, Mark M; Chalker, Jane J; Wilkhu, Lisa L; Mifsud, William W; Apps, John J; Thom, Maria M; Hubank, Mike M; Forshew, Tim T; Cross, J Helen JH; Hargrave, Darren D; Ham, Jonathan J; Jacques, Thomas S TS
Publication Date: 2018-01

Variant appearance in text: ATM: R1039L
PubMed Link: 29058119
Variant Present in the following documents:
  • Main text
  • 401_2017_Article_1773.pdf
View BVdb publication page