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Klaus Schmitz-Abe et al.
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Minxian Wang et al.
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Alejandra Aird et al.
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MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect
Daniel Esposito et al.
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Aime Lumaka et al.
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Yavuz Bayram et al.
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FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
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Matthew N. Bainbridge et al.
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Sarah B. Ng et al.
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[Anonymous]
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