Additional file 1 of Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
2020
Additional file 1: Supplementary Table 1. Full list of the 283 genes included in the ‘Beyond Paediatric Epilepsy Panel’ version used for this study. Abbreviations: MQ, mapping quality score UCSC, University of California Santa Cruz genome browser. Supplementary Table 2. Variants of unknown significance identified in this study. Abbreviations: AD, autosomal dominant; AR, autosomal recessive; CADD, Combined Annotation Dependent Depletion; F, female; HEM, hemizygous; HET, heterozygous; M, male; SIFT, Sorting Intolerant From Tolerant; VUS, variants of unknown significance; XL, X-linked.
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