Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q1982*
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ATM

NM_000051.4:p.Q1982*

Associated Papers

Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.

Ekram SN et al.

Discover Oncology, 2025

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility.

Guadagnolo D et al.

Biomedicines, 2023

Cyclin-Dependent Kinase 4/6 Inhibitor Outcomes in Patients With Advanced Breast Cancer Carrying Germline Pathogenic Variants in DNA Repair-Related Genes.

Bruno L et al.

Jco Precision Oncology, 2022

35235412 (PubMed )
Supplement: DS.PO.21.00140.pdf

Next-Generation Sequencing Reveals a Very Low Prevalence of Deleterious Mutations of Homologous Recombination Repair Genes and Homologous Recombination Deficiency in Ovarian Clear Cell Carcinoma.

Liu H et al.

Frontiers in Oncology, 2021

35096598 (PubMed )
Supplement: Table_2.xlsx › HRR_mutation_with_III

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1

A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.

Alonazi NA et al.

Neurosciences (riyadh, Saudi Arabia), 2018

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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."