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- Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect.J. Invest. Dermatol. 2012; 132: 98-104
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- Nanopore sequencing technology, bioinformatics and applications.Nat. Biotechnol. 2021; 39: 1348-1365
- Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations.Br. J. Dermatol. 2009; 161: 448-451
- Detection of revertant mosaicism in epidermolysis bullosa through Cas9-targeted long-read sequencing.Hum. Mutat. 2022; 43: 529-536
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- A remark on copy number variation detection methods.PloS One. 2018; 13e0196226
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- Nanopore sequencing detects structural variants in cancer.Cancer Biol. Ther. 2016; 17: 246-253