Additional file 1 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix
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Additional file 1: Table S1. Curated patient data set. Variants, age of onset, and severity phenotypes are shown for MLD patients curated from the literature. Nomenclature for ARSA variants has been updated, and for papers using the previous annotation system a +2 amino acid or +6 nucleotide coordinate shift has been applied. Cases for which this coordinate shift has been used are labeled in the Comments column. ARSA, arylsulfatase A; HGVSc, Human Genome Variation Society coding variant; HGVSp, Human Genome Variation Society protein variant.
创建时间：
2023-07-21
