Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.P1296S
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ATM

NM_000051.4:p.P1296S

Associated Papers

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B

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

Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden.

Ak M et al.

Genes, 2021

34202213 (PubMed )
Supplement: genes-12-00974-s001.zip › Supplemental_Table_S2_F1CDx_gene_alteration.xlsx › Tabelle1

Primary intracranial soft tissue sarcomas in children, adolescents, and young adults: single institution experience and review of the literature.

Maher OM et al.

Journal of Neuro-oncology, 2016

Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm.

Stenzinger A et al.

Oncotarget, 2014

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Soukupova J et al.

Neuromolecular Medicine, 2011

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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."