Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.C12R
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ATM

NM_000051.4:p.C12R

Associated Papers

Computational Analysis of Non-synonymous SNPs in ATM Kinase: Structural Insights, Functional Implications, and Inhibitor Discovery.

Panchal NK et al.

Molecular Biotechnology, 2025

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_5.xlsx › Sheet1

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

Mutlu-Albayrak H et al.

Neurogenetics, 2020

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

Cavalieri S et al.

European Journal of Human Genetics : Ejhg, 2013

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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."