Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E3022delFs
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ATM

NM_000051.4:p.E3022delFs

Associated Papers

Interplay of Mendelian and polygenic risk factors in Arab breast cancer patients.

Al-Jumaan M et al.

Genome Medicine, 2023

37658461 (PubMed )
Supplement: 13073_2023_1220_MOESM1_ESM.xls › Table_S5

Screening Newborns for Low T Cell Receptor Excision Circles (TRECs) Fails to Detect Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome.

Staudacher O et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2023

Genetics of ataxia telangiectasia in a highly consanguineous population.

Al-Muhaizea MA et al.

Annals of Human Genetics, 2022

T cell ALL in a child with Ataxia telangiectasia; diagnosis and management challenges.

Ahmed O et al.

Hematology (amsterdam, Netherlands), 2021

The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders.

Muthaffar OY

Balkan Journal of Medical Genetics : Bjmg, 2020

Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.

Al-Mousa H et al.

The Journal of Allergy and Clinical Immunology, 2016

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
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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."