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Blood, ISSN 0006-4971, 12/2016, Volume 128, Issue 22, pp. 362 - 362
Abstract The incidence of inherited rare bleeding, thrombotic and platelet disorders (BPD) is estimated to be 200-250 per million individuals. A considerable... 
Journal Article
Blood, ISSN 0006-4971, 12/2016, Volume 128, Issue 22, pp. 1359 - 1359
Abstract The incidence of inherited rare bleeding, thrombotic and platelet disorders (BPD) is estimated to be 200-250 per million individuals. For at least 15%... 
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2015, Volume 112, Issue 15, p. E1898
  Next-generation sequencing is transforming our understanding of human genetic variation but assessing the functional impact of novel variants presents... 
Biological variation | Genes | Amino acids | Genomes | Mutation
Journal Article
Proceedings of the National Academy of Sciences of the United States, ISSN 0027-8424, 04/2015, Volume 112, Issue 15, p. E1898
Glanzmann | integrin | single-nucleotide variants | next-generation sequencing | molecular modeling 
Genetic variation | Blood clotting disorders | Disease susceptibility | Genetic aspects | Nucleotide sequencing | Identification and classification | Methods | Risk factors | DNA sequencing
Journal Article
Blood, ISSN 0006-4971, 12/2014, Volume 124, Issue 21, pp. 4151 - 4151
Abstract # Authors contributed equally to this work. ~ Currently at Genomics England Ltd, London, United Kingdom Next generation sequencing is transforming our... 
Journal Article
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