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SROOGLE: webserver for integrative, user-friendly visualization of splicing signals
Schraga Schwartz et al.
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Agnes Mereau et al.
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Ana Luisa Silva et al.
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C. Bonnet et al.
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J. H. Marden
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Correction: Discovery and analysis of evolutionarily conserved intronic splicing regulatory elements
Gene W. Yeo et al.
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Rezarta Islamaj Dogan et al.
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Marco Baralle et al.
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C Ehrhardt et al.
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XHF Zhang et al.
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TA Cooper
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M Eriksson et al.
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ML Hastings et al.
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