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Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes

BACKGROUND: Exome sequencing has recently become more readily available, and more information about incidental findings has been disclosed. However, data from East Asia are scarce. We studied the application of exome sequencing to the identification of pathogenic/likely pathogenic variants in the AC...

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Bibliografische gegevens
Gepubliceerd in:Mol Genet Genomic Med
Hoofdauteurs: Kuo, Chieh‐Wen, Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Hsu, Ching, Hung, Miao‐Zi, Lin, I‐Lin, Lai, Feipei, Lee, Ni‐Chung
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2020
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549563/
https://ncbi.nlm.nih.gov/pubmed/32794656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1455
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