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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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Kuo, Chieh‐Wen, Hwu, Wuh‐Liang, Chien, Yin‐Hsiu, Hsu, Ching, Hung, Miao‐Zi, Lin, I‐Lin, Lai, Feipei, Lee, Ni‐Chung
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
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Original Articles
Online adgang: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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