Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
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DOI: 10.1186/s13023-020-01608-0
Abstract: Background 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… read more here.
Keywords: disease causing; population based; prevalence; estimated prevalence ... See more keywords