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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes
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 to identify potential disease-causing v...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7672855/ https://www.ncbi.nlm.nih.gov/pubmed/33208168 http://dx.doi.org/10.1186/s13023-020-01608-0 |