Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Q161R
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ATM

NM_000051.4:p.Q161R

Associated Papers

Prospective genetic germline evaluation in a consecutive group of adult patients aged <60 years with myelodysplastic syndromes.

Attardi E et al.

Hemasphere, 2024

39015540 (PubMed )
Supplement: HEM3-8-e112-s002.docx

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_2.xlsx › Sheet1

Using Co-segregation and Loss of Heterozygosity Analysis to Define the Pathogenicity of Unclassified Variants in Hereditary Breast Cancer Patients.

Grasel RS et al.

Frontiers in Oncology, 2020

33134171 (PubMed )
Supplement: Data_Sheet_1.docx
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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."