ATM c.4044G>C ;(p.L1348F)

Variant ID: 11-108158377-G-C

NM_000051.3(ATM):c.4044G>C;(p.L1348F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Bladder cancer organoids as a functional system to model different disease stages and therapy response.

Nature Communications
Minoli, Martina M; Cantore, Thomas T; Hanhart, Daniel D; Kiener, Mirjam M; Fedrizzi, Tarcisio T; La Manna, Federico F; Karkampouna, Sofia S; Chouvardas, Panagiotis P; Genitsch, Vera V; Rodriguez-Calero, Antonio A; Compérat, Eva E; Klima, Irena I; Gasperini, Paola P; Kiss, Bernhard B; Seiler, Roland R; Demichelis, Francesca F; Thalmann, George N GN; Kruithof-de Julio, Marianna M
Publication Date: 2023-04-18

Variant appearance in text: ATM: L1348F
PubMed Link: 37072390
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_37696.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 4044G>C; L1348F
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page