Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.A235T
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ATM

NM_000051.4:p.A235T

Associated Papers

Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition.

Chevrier S et al.

Clinical and Translational Medicine, 2025

39783935 (PubMed )
Supplement: CTM2-15-e70138-s002.docx

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )
Supplement: pky054_supp.docx

The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

Athanasakis E et al.

Oncotarget, 2014

25587027 (PubMed )
Supplement: oncotarget-05-12635-s001.pdf
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