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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Detalles Bibliográficos
Autores principales: Borges, Pâmella, Pasqualim, Gabriela, Giugliani, Roberto, Vairo, Filippo, Matte, Ursula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
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

Internet

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

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