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URL: http://scholar.google.com/scholar_lookup?title=A+splicing+mutation+affecting+expression+of+ataxia-telangiectasia+and+Rad3-related+protein+%28ATR%29+results+in+Seckel+syndrome&year=2003&author=O%E2%80%99Driscoll&journal=Nat+Genet&volume=33&issue=4&pages=497-501&doi=10.1038%2Fng1129&pmid=12640452