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Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database
BACKGROUND: The genetic prevalence of Pompe disease was estimated based on the proportion of individuals who have a causative genotype in a general population database. In addition, clinical severity for causative genotypes was assessed based on currently available locus-specific databases (LSDBs),...
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| Publicado no: | Mol Genet Metab Rep |
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| Autor principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7933537/ https://ncbi.nlm.nih.gov/pubmed/33717985 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100734 |
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