Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD
量化罕见表型致病性的证据:以琥珀酸脱氢酶基因 SDHB 和 SDHD 为例
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2021.08.004
Garrett, Alice; Loveday, Chey; King, Laura; Butler, Samantha; Robinson, Rachel; Horton, Carrie; Yussuf, Amal; Choi, Subin; Torr, Beth; Durkie, Miranda; Burghel, George J; Drummond, James; Berry, Ian; Wallace, Andrew; Callaway, Alison; Eccles, Diana; Tischkowitz, Marc; Tatton-Brown, Katrina; Snape, Katie; McVeigh, Terri; Izatt, Louise; Woodward, Emma R; Burnichon, Nelly; Gimenez-Roqueplo, Anne-Paule; Mazzarotto, Francesco; Whiffin, Nicola; Ware, James; Hanson, Helen; Pesaran, Tina; LaDuca, Holly; Buffet, Alexandre; Maher, Eamonn R; Turnbull, Clare