Additional file 4 of Fabry disease screening in high-risk populations in Japan: a nationwide study
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Additional file 4: Table S2. Variants detected during high-risk screening for Fabry disease. Fabry-database.org : last updated 2019/02/15 ver.3.2.2. NR: not registered, (#): Potential alteration of splicing predicted by Human Splicing Finder. ** +: amenable, −: not amenable,?: unknown, NA: not available, 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
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2020-08-26
