Population based frequency of naturally occurring loss‐of‐function variants in genes associated with platelet disorders
Joseph H. Oved, Michele P. Lambert, M. Anna Kowalska, Mortimer Poncz, Konrad J. Karczewski
Topics & Concepts
Loss functionPopulationGeneticsExome sequencingBiologyGeneHaploinsufficiencyPlatelet disorderPhenotypeAllele frequencyBioinformaticsPlateletMedicineAlleleImmunologyEnvironmental healthGenomics and Rare DiseasesImmunodeficiency and Autoimmune DisordersPlatelet Disorders and Treatments