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- 2020
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Mark
Evaluating drug targets through human loss-of-function genetic variation
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- Contribution to journal › Article
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Mark
Transcript expression-aware annotation improves rare variant interpretation
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- Contribution to journal › Article
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Mark
The mutational constraint spectrum quantified from variation in 141,456 humans
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- Contribution to journal › Article
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Mark
The effect of LRRK2 loss-of-function variants in humans
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- Contribution to journal › Article
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Mark
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
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- Contribution to journal › Article
- 2014
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Mark
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.
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- Contribution to journal › Article