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Article

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 - 14 Apr 2015

Buitrago Lorena, Rendon Augusto, Liang Yupu, Simeoni Ilenia, Negri Ana, Filizola Marta, Ouwehand Willem H, Coller Barry S

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25827233
DOI: 10.1073/pnas.1422238112
PMCID: PMC4403182

Genes

ITGB3
MAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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