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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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Borges, Pâmella, Pasqualim, Gabriela, Giugliani, Roberto, Vairo, Filippo, Matte, Ursula
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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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