Additional file 3 of Fabry disease screening in high-risk populations in Japan: a nationwide study

Additional file 3: Table S1. Demographic characteristics of patients identified by high-risk screening for Fabry disease. NA: not available, (#): Potential alteration of splicing predicted by Human Splicing Finder. Amenability; +: amenable, −: not amenable,?: unknown ( http://www.galafoldamenabilitytable.jp/reference , access at 2020/01/06). p.F69L/c.207C > A was reported by Umeda et al., Hum. Genome Var. 2 (2015) 15044. Gray box: novel variants

附加文件3：表S1。法布里病（Fabry disease）高风险筛查检出患者的人口统计学特征。NA：无可用数据，(#)：由人类剪接预测工具（Human Splicing Finder）预测的剪接潜在改变。可及性评价：+：可及，−：不可及，?：未知（数据来源：http://www.galafoldamenabilitytable.jp/reference，访问时间：2020/01/06）。突变p.F69L/c.207C>A由Umeda等人发表于《人类基因组变异》（Hum. Genome Var.）2015年第2卷第15044号文章。灰色框标注：新型变异位点。