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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Biochemistry, Genetics and Molecular Biology