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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Библиографические подробности
Опубликовано в: :Mol Genet Genomic Med
Главные авторы: Kuo, Chieh‐Wen, Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Hsu, Ching, Hung, Miao‐Zi, Lin, I‐Lin, Lai, Feipei, Lee, Ni‐Chung
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2020
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Original Articles
Online-ссылка: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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