Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K750_S751Splc
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ATM

NM_000051.4:p.K750_S751Splc

Associated Papers

Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort.

Paksoy B et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › PVs

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).

Asadollahi R et al.

Molecular Genetics & Genomic Medicine, 2020

Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.

Mutlu-Albayrak H et al.

Neurogenetics, 2020

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5

Uncommon variants detected via hereditary cancer panel and suggestions for genetic counseling.

Özdemir Z et al.

Mutation Research, 0

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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."