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Population data improves variant interpretation in autosomal dominant polycystic kidney disease
PURPOSE: Autosomal dominant polycystic kidney disease (ADPKD) is a common adult-onset monogenic disorder, with prevalence of 1/1000. Population databases including ExAC have improved pathogenic variant prioritization in many diseases. Due to pseudogene homology of PKD1, the predominant ADPKD disease...
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| Publicado no: | Genet Med |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6677146/ https://ncbi.nlm.nih.gov/pubmed/30369598 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0324-x |
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