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Ben Tran et al.
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Iris Schrijver et al.
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The Genotype-Tissue Expression (GTEx) project
John Lonsdale et al.
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Susanne Horn et al.
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Amy L. McGuire et al.
SCIENCE (2013)
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Umadevi Paila et al.
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Janneke H. M. Schuurs-Hoeijmakers et al.
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Christian Gilissen et al.
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Pablo Cingolani et al.
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Maren T. Scheuner et al.
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Dokyoon Kim et al.
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Eugene Fratkin et al.
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Amy S. Gargis et al.
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Anton Nekrutenko et al.
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Joep de Ligt et al.
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SMART 7: recent updates to the protein domain annotation resource
Ivica Letunic et al.
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Ngak-Leng Sim et al.
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Shihua Zhang et al.
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Jacob A. Tennessen et al.
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Carol Jean Saunders et al.
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CELL (2011)
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Simon A. Forbes et al.
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Boris Reva et al.
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Callum J. Bell et al.
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BMJ-BRITISH MEDICAL JOURNAL (2011)
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren et al.
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Sarah E. Flanagan et al.
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Delphine Simon et al.
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The Human Variome Project (HVP) 2009 Forum Towards Establishing Standards
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Elizabeth T. Cirulli et al.
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Sven Arnold et al.
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Philip A. Chan et al.
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