Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R13H
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ATM

NM_000051.4:p.R13H

Associated Papers

Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.

Riviere-Cazaux C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39715486 (PubMed )
Supplement: ccr-24-1814_supplemental_table_2_suppts2.xlsx › Sheet1

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

Distinct Driver Pathway Enrichments and a High Prevalence of TSC2 Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis.

Tapia-Valladares C et al.

International Journal of Molecular Sciences, 2024

38731914 (PubMed )
Supplement: ijms-25-04695-s001.zip › ijms-2890573-supplementary.pdf

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14

A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Chen S et al.

Genome Research, 2022

34963661 (PubMed )
Supplement: supp_gr.275437.121_Supplementary_Table_1.xlsx › Non-recurrent_variants

Development and Validation of Targeted Gene Sequencing Panel Based Companion Diagnostic for Korean Patients with Solid Tumors.

Min BJ et al.

Cancers, 2021

Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico.

Dutil J et al.

Scientific Reports, 2019

Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Deng Q et al.

Heliyon, 2018

30603682 (PubMed )
Supplement: mmc2.xlsx › Raw_reads_info

Somatic Mutations in Prostate Cancer: Closer to Personalized Medicine.

Alvarez-Cubero MJ et al.

Molecular Diagnosis & Therapy, 2017

ATM-Deficient Colorectal Cancer Cells Are Sensitive to the PARP Inhibitor Olaparib.

Wang C et al.

Translational Oncology, 2017

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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."