Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.Y2100*
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ATM

NM_000051.4:p.Y2100*

Associated Papers

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6

[First results of comprehensive genomic studies on solid tumours in National Institute of Oncology].

Tóth E et al.

Magyar Onkologia, 2025

Pathogenic germline variants in cancer predisposition genes in patients with multiple primary cancers in an Asian population and the role of extended panel genetic testing.

Cheo SW et al.

Esmo Open, 2025

40068381 (PubMed )
Supplement: mmc1.xlsx › All_positive

Application of comprehensive molecular genetic profiling in precision cancer medicine, Hungarian experiences.

Tóth E et al.

Acta Oncologica (stockholm, Sweden), 2024

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.

Turchiano A et al.

Genes, 2023

A framework for individualized splice-switching oligonucleotide therapy.

Kim J et al.

Nature, 2023

37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › P_LP_germline_alterations
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