Additional file 3 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix
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Additional file 3: Table S3. Comprehensive variants. Summary of all variants present in the curated patient data set, all variants from gnomAD, and novel variants reported by MLD Foundation or NBS. All columns are described in the table legend. CDS, coding sequence; GRCh37, Genome Reference Consortium Human Build 37; SNP, single nucleotide polymorphism; WT, wild-type.
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figshare
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2023-07-22
