Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E223K
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ATM

NM_000051.4:p.E223K

Associated Papers

Unproductive alternative splicing of ATM exon 7: mapping of critical regulatory elements and identification of 34 spliceogenic variants.

Llinares-Burguet I et al.

Journal of Molecular Medicine (berlin, Germany), 2025

Genetic heterogeneity and prognostic impact of recurrent ANK2 and TP53 mutations in mantle cell lymphoma: a multi-centre cohort study.

Jeong S et al.

Scientific Reports, 2020

32770099 (PubMed )
Supplement: 41598_2020_70310_MOESM1_ESM.pdf

Next-generation sequencing of urine specimens: A novel platform for genomic analysis in patients with non-muscle-invasive urothelial carcinoma treated with bacille Calmette-Guérin.

Scott SN et al.

Cancer Cytopathology, 2017

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
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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."