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Refined by: creation date: After 2004 remove creation date: 2014To2017 remove collection: Ecology Abstracts remove author: Soranzo, Nicole remove
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The UK10K project identifies rare variants in health and disease.

Nature, October 1, 2015, Vol.526(7571), pp.82-90 [Peer Reviewed Journal]

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Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Huang, J., B. Howie, S. McCarthy, Y. Memari, K. Walter, J. L. Min, P. Danecek, et al. 2015. “Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.” Nature Communications 6 (1): 8111. doi:10.1038/ncomms9111. http://dx.doi.org/10.1038/ncomms9111. [Peer Reviewed Journal]

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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Schmidts, M., Y. Hou, C. R. Cortés, D. A. Mans, C. Huber, K. Boldt, M. Patel, et al. 2015. “TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.” Nature Communications 6 (1): 7074. doi:10.1038/ncomms8074. http://dx.doi.org/10.1038/ncomms8074. [Peer Reviewed Journal]

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