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Nature Genetics 22, 13–14 (1 May 1999) | doi:10.1038/8719

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

Karine Merienne , Sylvie Jacquot , Solange Pannetier , Maria Zeniou , Agnes Bankier , Jozef Gecz , Jean-Louis Mandel , John Mulley , Paolo Sassone-Corsi & Andr|[eacute]| Hanauer