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Melissa C. Southey et al.
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C. C. Pritchard et al.
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J. Mateo et al.
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A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes
J. M. Eggington et al.
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International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer
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GUT (2013)
Rare variants in the ATM gene and risk of breast cancer
David E. Goldgar et al.
BREAST CANCER RESEARCH (2011)
The PARP inhibitor olaparib induces significant killing of ATM-deficient lymphoid tumor cells in vitro and in vivo
Victoria J. Weston et al.
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Sean V. Tavtigian et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Risk of cancer by ATM missense mutations in the general population
Sarah Louise Dombernowsky et al.
JOURNAL OF CLINICAL ONCOLOGY (2008)
Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling
Nic Waddell et al.
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J. L. Bernstein et al.
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