ATM c.3073T>C ;(p.F1025L)

Variant ID: 11-108142129-T-C

NM_000051.3(ATM):c.3073T>C;(p.F1025L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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Nature Cancer
Tamborero, David D; Dienstmann, Rodrigo R; Rachid, Maan Haj MH; Boekel, Jorrit J; Lopez-Fernandez, Adria A; Jonsson, Markus M; Razzak, Ali A; Braña, Irene I; De Petris, Luigi L; Yachnin, Jeffrey J; Baird, Richard D RD; Loriot, Yohann Y; Massard, Christophe C; Martin-Romano, Patricia P; Opdam, Frans F; Schlenk, Richard F RF; Vernieri, Claudio C; Masucci, Michele M; Villalobos, Xenia X; Chavarria, Elena E; , ; Balmaña, Judith J; Apolone, Giovanni G; Caldas, Carlos C; Bergh, Jonas J; Ernberg, Ingemar I; Fröhling, Stefan S; Garralda, Elena E; Karlsson, Claes C; Tabernero, Josep J; Voest, Emile E; Rodon, Jordi J; Lehtiö, Janne J
Publication Date: 2022-02

Variant appearance in text: ATM: Phe1025Leu
PubMed Link: 35221333
Variant Present in the following documents:
  • 43018_2022_332_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of p53 and ATM functionality in chronic lymphocytic leukemia by multiplex ligation-dependent probe amplification.

Cell Death & Disease
te Raa, G D GD; Moerland, P D PD; Leeksma, A C AC; Derks, I A IA; Yigittop, H H; Laddach, N N; Loden-van Straaten, M M; Navrkalova, V V; Trbusek, M M; Luijks, D M DM; Zenz, T T; Skowronska, A A; Hoogendoorn, M M; Stankovic, T T; van Oers, M H MH; Eldering, E E; Kater, A P AP
Publication Date: 2015-08-06

Variant appearance in text: ATM: F1025L
PubMed Link: 26247737
Variant Present in the following documents:
View BVdb publication page