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Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

  作者 Klassen, T; Davis, C; Goldman, A; Burgess, D; Chen, T; Wheeler, D; McPherson, J; Bourquin, T; Lewis, L; Villasana, D; Morgan, M; Muzny, D; Gibbs, R; Noebels, J  
  选自 期刊  Cell;  卷期  2011年145-7;  页码  1036-1048  
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[摘要]Ion channel mutations are an important cause of rare Mendelian disorders affecting brain, heart, and other tissues. We performed parallel exome sequencing of 237 channel genes in a well-characterized human sample, comparing variant profiles of unaffected

 
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