Additional file 2 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix
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Additional file 2: Table S2. Tabulated genotypes. Consolidation and summary of all genotypes from curated MLD patients. For each genotype, the breakdown of all associated phenotypes in the literature is provided. Entropy, a measure of phenotypic variability for a genotype, and the phenotype matrix’s accuracy in predicting phenotypes are also included. ARSA, arylsulfatase A; CDS, coding sequence.
创建时间：
2023-07-21
