Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
利用7855例心肌病病例和60706个参考样本重新评估孟德尔基因致病性
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/gim.2016.90
Walsh, Roddy; Thomson, Kate L; Ware, James S; Funke, Birgit H; Woodley, Jessica; McGuire, Karen J; Mazzarotto, Francesco; Blair, Edward; Seller, Anneke; Taylor, Jenny C; Minikel, Eric V; Exome Aggregation Consortium; MacArthur, Daniel G; Farrall, Martin; Cook, Stuart A; Watkins, Hugh
