Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.L2450*
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ATM

NM_000051.4:p.L2450*

Associated Papers

Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis.

Bilyalov A et al.

Cancers, 2023

38201513 (PubMed )
Supplement: cancers-16-00085-s001.zip › Table_S1.xlsx › table_S1

POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.

Calvete O et al.

Journal of the American Heart Association, 2019

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