Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
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London: BioMed Central Ltd
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English
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London: BioMed Central Ltd
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In this study, the prevalence of different types of mucopolysaccharidoses (MPS) was estimated based on data from the exome aggregation consortium (ExAC) and the genome aggregation database (gnomAD). The population-based allele frequencies were used to identify potential disease-causing variants on each gene related to MPS I to IX (except MPS II). W...
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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
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TN_cdi_doaj_primary_oai_doaj_org_article_1c12f9b1c4f54d9d98be953a87b012c7
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1c12f9b1c4f54d9d98be953a87b012c7
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-020-01608-0
