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Karthik A. Jagadeesh et al.
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Giulio Genovese et al.
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Sue Richards et al.
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Satoko Miyatake et al.
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Anita S. Bledau et al.
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Kevin A. Strauss et al.
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Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity in gastric and colorectal cancers with high microsatellite instability
Youn Jin Choi et al.
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Yongmei Song et al.
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Christian Gilissen et al.
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Ivan Iossifov et al.
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Martin Kircher et al.
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Fadi F. Hamdan et al.
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Y. Qiao et al.
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Tjitske Kleefstra et al.
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Menachem Fromer et al.
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Anita Rauch et al.
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Stephan J. Sanders et al.
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Brian J. O'Roak et al.
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Joep de Ligt et al.
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Sarah B. Ng et al.
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Raymond Pfau et al.
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Jeong-Heon Lee et al.
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