Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E2950_V2951Splc
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ATM

NM_000051.4:p.E2950_V2951Splc

Associated Papers

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants.

Llinares-Burguet I et al.

International Journal of Molecular Sciences, 2026

Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.

Moeini Shad T et al.

Frontiers in Immunology, 2021

35095854 (PubMed )
Supplement: DataSheet_1.pdf

ATM in breast and brain tumors: a comprehensive review.

Estiar MA et al.

Cancer Biology & Medicine, 2018

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Li J et al.

Journal of Medical Genetics, 2016

Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.

Claes K et al.

Neuromolecular Medicine, 2013

Rare variants in the ATM gene and risk of breast cancer.

Goldgar DE et al.

Breast Cancer Research : Bcr, 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."