Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S712*
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ATM

NM_000051.4:p.S712*

Associated Papers

Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.

Jenni R et al.

Journal of Translational Medicine, 2026

Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.

Iyevleva AG et al.

International Journal of Molecular Sciences, 2025

41465280 (PubMed )
Supplement: ijms-26-11851-s001.zip › Supplementary_Table_1.xlsx › Supplementary_table_S1

Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.

Subramanian DN et al.

Npj Genomic Medicine, 2025

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

ESR1 ligand-binding domain mutations in hormone-resistant breast cancer.

Toy W et al.

Nature Genetics, 2013

24185512 (PubMed )
Supplement: NIHMS531250-supplement-2.xlsx › All_samples_N_36_
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