Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.S2855_V2856delins
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ATM

NM_000051.4:p.S2855_V2856delins

Associated Papers

A framework for individualized splice-switching oligonucleotide therapy.

Kim J et al.

Nature, 2023

37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1

ATM Kinase Dead: From Ataxia Telangiectasia Syndrome to Cancer.

Putti S et al.

Cancers, 2021

The Implications of Genetic Testing on Radiation Therapy Decisions: A Guide for Radiation Oncologists.

Bergom C et al.

International Journal of Radiation Oncology, Biology, Physics, 2019

Severe Late Toxicity After Adjuvant Breast Radiotherapy in a Patient with a Germline Ataxia Telangiectasia Mutated Gene: Future Treatment Decisions.

Dosani M et al.

Cureus, 2017

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

LaDuca H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

24763289 (PubMed )
Supplement: gim201440x3.xls › Sheet1

Modeling ATM mutant proteins from missense changes confirms retained kinase activity.

Barone G et al.

Human Mutation, 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."