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American Journal of Medical Genetics. Part A|May 16, 2003
Osseous fragility in Marshall-Smith syndromeMohammad Diab, Michael Raff, Daniel F GuntherPlos One|May 4, 2017
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR traffickingSwati Khare, Jerelyn A Nick, Yalan Zhang, et al.Pageof 1