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Additional file 2 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

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DataCite Commons2023-07-22 更新2024-08-18 收录
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https://springernature.figshare.com/articles/dataset/Additional_file_2_of_Predicting_disease_severity_in_metachromatic_leukodystrophy_using_protein_activity_and_a_patient_phenotype_matrix/23730857/1
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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.
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figshare
创建时间:
2023-07-22
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