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Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools
PURPOSE: We aimed to estimate the carrier frequency of Zellweger spectrum disorder (ZSD), a rare autosomal-recessive disease, and the associated disease incidence based on data from the Exome Aggregation Consortium (ExAC) of approximately 60,000 individuals. METHODS: We obtained variants from ExAC i...
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| Publicado no: | Genet Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7171923/ https://ncbi.nlm.nih.gov/pubmed/30846882 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0468-3 |
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