Leveragingsplice-affecting variant predictors and a minigene validation system toidentify Mendelian disease-causing variants amongst exon-captured variants ofuncertain significance
Leveragingsplice-affecting variant predictors and a minigene validation system toidentify Mendelian disease-causing variants amongst exon-captured variants ofuncertain significance
复制标题
利用影响剪接的变异预测因子和小基因验证系统来识别具有不确定意义的外显子捕获变异中的孟德尔致病变异
作者：
Soens Z. T.;J. Branch;S. Wu;Z. Yuan;Y. Li;H. Li;K. Wang;M. Xu;L. Rajan;F. L. Motta;R. T. Simoes;I. Lopez-Solache;R. Ajlan;D. G. Birch;P. Zhao;F. B. Porto;J. Sallum;R. K. Koenekoop;Sui R;R. Chen
