Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.N2679_Q2684delFs
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ATM

NM_000051.4:p.N2679_Q2684delFs

Associated Papers

ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia.

Lai J et al.

Cell Reports, 2024

38159274 (PubMed )
Supplement: NIHMS1961502-supplement-2.xlsx › ATM_mutations

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

A Novel Alu Element Insertion in ATM Induces Exon Skipping in Suspected HBOC Patients.

Klein J et al.

Human Mutation, 2023

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Diagnostic yield of a custom-designed multi-gene cancer panel in Irish patients with breast cancer.

McVeigh ÚM et al.

Irish Journal of Medical Science, 2020

Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Nassar AH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31844177 (PubMed )
Supplement: 41436_2019_720_MOESM4_ESM.xlsx › S1.2_Pathogenic_variants
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."