ATM c.99G>C ;(p.L33=)

Variant ID: 11-108098529-G-C

NM_000051.3(ATM):c.99G>C;(p.L33=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia.

Oncotarget
Lesport, Emilie E; Ferster, Alina A; Biver, Armand A; Roch, Benoit B; Vasquez, Nadia N; Jabado, Nada N; Vives, Francina Langa FL; Revy, Patrick P; Soulier, Jean J; de Villartay, Jean-Pierre JP
Publication Date: 2018-01-09

Variant appearance in text: ATM: 99G>C
PubMed Link: 29423082
Variant Present in the following documents:
  • Main text
  • oncotarget-09-3779.pdf
View BVdb publication page