Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.E1892Splc
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ATM

NM_000051.4:p.E1892Splc

Associated Papers

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.

Llinares-Burguet I et al.

The Journal of Pathology, 2026

41230741 (PubMed )
Supplement: PATH-268-150-s001.zip › path6497-sup-0003-TableS2.docx

Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2-mediated antioxidant response.

Biagiotti S et al.

The Febs Journal, 2016

Patient with ataxia telangiectasia who developed acute myeloid leukemia.

Brioli A et al.

Leukemia & Lymphoma, 2011

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.

Magliozzi M et al.

Disease Markers, 2006

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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."