Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2116Splc
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ATM

NM_000051.4:p.S2116Splc

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

Clinical Impact of a Rapid Genetic Testing Model for Advanced Prostate Cancer Patients.

Breen KE et al.

The Journal of Urology, 2023

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

Lee DJ et al.

European Urology, 2022

34711450 (PubMed )
Supplement: NIHMS1772233-supplement-Supplementary_Tables.xlsx › TableS4

Next-Generation Sequencing Analysis of ctDNA for the Detection of Glioma and Metastatic Brain Tumors in Adults.

Liang J et al.

Frontiers in Neurology, 2020

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
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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."