Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2760delFs
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ATM

NM_000051.4:p.L2760delFs

Associated Papers

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Wu TH et al.

Scientific Reports, 2023

36918699 (PubMed )
Supplement: 41598_2023_31134_MOESM1_ESM.pdf

Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

Carranza D et al.

Neuromolecular Medicine, 2017

Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Yamamoto K et al.

Elife, 2016

27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A

Genetic and epigenetic aberrations occurring in colorectal tumors associated with serrated pathway.

Sakai E et al.

International Journal of Cancer, 2016

26510091 (PubMed )
Supplement: IJC-138-1634-s001.pdf

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.

Prodosmo A et al.

The Journal of Clinical Investigation, 2013

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

Graña B et al.

Breast Cancer Research and Treatment, 2011

Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.

Chessa L et al.

Annals of Human Genetics, 2009

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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."