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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171923/ https://www.ncbi.nlm.nih.gov/pubmed/30846882 http://dx.doi.org/10.1038/s41436-019-0468-3 |