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Article

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

19 Jun 2019

Abstract excerpt

To identify novel causes of hereditary thrombocytopenia, we performed a genetic association analysis of whole-genome sequencing data from 13 037 individuals enrolled in the National Institute for Health Research (NIHR) BioResource, including 233 cases with isolated thrombocytopenia. We found an association between rare variants in the transcription factor-encoding gene IKZF5 and thrombocytopenia. We report 5...

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PMID: 31217188
DOI: 10.1182/blood.2019000782

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