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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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