Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R45Q
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ATM

NM_000051.4:p.R45Q

Associated Papers

Germline variants observed in pediatric cancer patients related to hereditary breast and ovarian cancer in adults.

Daugs K et al.

International Journal of Cancer, 2025

40857049 (PubMed )
Supplement: IJC-157-2447-s001.xlsx › Suppl.Tab5_187VUS_n372

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3A

Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.

Shah SM et al.

Cancer Research Communications, 2024

38282550 (PubMed )
Supplement: crc-23-0312-s02.xlsx › Fig3A_CRC_data

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Genetic and histologic spatiotemporal evolution of recurrent, multifocal, multicentric and metastatic glioblastoma.

Georgescu MM et al.

Acta Neuropathologica Communications, 2020

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

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Abe S et al.

Journal of Medical Genetics, 2000

Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas.

van de Geer WS et al.

Neuro-oncology Advances, 0

35047820 (PubMed )
Supplement: vdab177_suppl_supplementary_data.xlsx › Figure5
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