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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...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7672855/ https://ncbi.nlm.nih.gov/pubmed/33208168 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01608-0 |
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