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1. Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.

Author

van Oorschot R, Marneth AE, Bergevoet SM, van Bergen MGJM, Peerlinck K, Lentaigne CE, Millar CM, Westbury SK, Favier R, Erber WN, Turro E, Jansen JH, Ouwehand WH, McKinney HL, Downes K, Freson K, and van der Reijden BA

Subjects
Alleles, Gene Expression, Genetic Association Studies, Genotype, Hemorrhagic Disorders blood, Hemorrhagic Disorders diagnosis, Humans, Pedigree, Proto-Oncogene Proteins metabolism, Repressor Proteins metabolism, Disease Susceptibility, Hemorrhagic Disorders etiology, Mutation, Missense, Proto-Oncogene Proteins genetics, Repressor Proteins genetics
Published
2019
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