ATM c.4415dup ;(p.L1472Ffs*19)

Variant ID: 11-108160504-C-CT

NM_000051.3(ATM):c.4415dup;(p.L1472Ffs*19)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

Plos One
Chen, Zhao Z; Ye, Wei W; Long, Zhe Z; Ding, Dongxue D; Peng, Huirong H; Hou, Xuan X; Qiu, Rong R; Xia, Kun K; Tang, Beisha B; Jiang, Hong H
Publication Date: 2015

Variant appearance in text: ATM: 4412_4413insT; L1472Ffs*19
PubMed Link: 26439923
Variant Present in the following documents:
  • Main text
  • pone.0139738.pdf
View BVdb publication page