Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel Syndrome

Marta Llorens-Agost, Janna Luessing, Amandine van Beneden, John Eykelenboom, Dawn O'Reilly, Louise S. Bicknell, John J. Reynolds, Marianne van Koegelenberg, Matthew E. Hurles, Angela F. Brady, Andrew P. Jackson, Grant S. Stewart, Noel F. Lowndes

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Medicine & Life Sciences