αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.

@article{Buitrago2015IIb3VD,
  title={αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.},
  author={Lorena Buitrago and Augusto Rendon and Yupu Liang and Ilenia Simeoni and Ana Negri and Marta Filizola and Willem H Ouwehand and Barry S. Coller},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2015},
  volume={112 15},
  pages={E1898-907}
}
Next-generation sequencing is transforming our understanding of human genetic variation but assessing the functional impact of novel variants presents challenges. We analyzed missense variants in the integrin αIIbβ3 receptor subunit genes ITGA2B and ITGB3 identified by whole-exome or -genome sequencing in the ThromboGenomics project, comprising ∼32,000 alleles from 16,108 individuals. We analyzed the results in comparison with 111 missense variants in these genes previously reported as being… CONTINUE READING
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