Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.N2679fs
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ATM

NM_000051.4:p.N2679fs

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

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

Klein J et al.

Human Mutation, 2023

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."