Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K792_K793Splc
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ATM

NM_000051.4:p.K792_K793Splc

Associated Papers

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

Graña B et al.

Breast Cancer Research and Treatment, 2011

Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.

García-Pérez MA et al.

Clinical and Experimental Immunology, 2001

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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."