αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia
(2015)
Journal Article
Buitrago, L., Rendon, A., Liang, Y., Simeoni, I., Negri, A., ThromboGenomics Consortium, …Coller, B. S. (2015). αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. Proceedings of the National Academy of Sciences of the United States of America, 112(15), E1898-E1907. https://doi.org/10.1073/pnas.1422238112
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... Read More about αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia.