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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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Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: Kuo, Chieh‐Wen, Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Hsu, Ching, Hung, Miao‐Zi, Lin, I‐Lin, Lai, Feipei, Lee, Ni‐Chung
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2020
Teme:
Online pristup: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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