Genetic & Genomic MedicineCirculation Genomic and Precision MedicinePeer-reviewed
Hereditary hemorrhagic telangiectasia prevalence estimates calculated from gnomAD allele frequencies of predicted pathogenic variants in ENG and ACVRL1
Anthony R. Anzell, Carter White, Brenda B. Diergaarde…·Beth L. Roman
The paper estimates HHT prevalence using gnomAD variant frequencies and three methods, finding it 2-12 times higher than current estimates.
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