Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L762fs
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ATM

NM_000051.4:p.L762fs

Associated Papers

Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.

Chow RD et al.

Npj Precision Oncology, 2024

39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3

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

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Putti S et al.

Cancers, 2021

Comparison Between Familial Colorectal Cancer Type X and Lynch Syndrome: Molecular, Clinical, and Pathological Characteristics and Pedigrees.

Xu Y et al.

Frontiers in Oncology, 2020

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K et al.

Annals of Neurology, 2019

30549301 (PubMed )
Supplement: ANA-85-170-s001.pdf

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."