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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Detalles Bibliográficos
Autores principales: Vasiljevic, Eva, Ye, Zhan, Pavelec, Derek M., Darst, Burcu F., Engelman, Corinne D., Baker, Mei W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
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

Internet

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

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