European Journal of Medical Genetics · 2012 · 30 citations · 7 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersGenetic SyndromesSpasticity PathophysiologySplice-site Mutations
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Margaret M.P. Pearce, Yuan Wang, Grant G. Kelley et al. · Journal of Biological Chemistry · 2007 · 110 citations · Full text