Associated Papers
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.
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Genome-wide discovery of human splicing branchpoints.
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Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.
Au KS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
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