Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dube-Associated Phenotypes in a Healthcare System Population
Juliann M. Savatt, Hermela Shimelis, Andrés Moreno-De-Luca…·Brenda M. Finucane
The paper estimates the prevalence of FLCN pathogenic variants and BHD-related phenotypes in a healthcare population, finding a higher frequency than previously reported and underdiagnosis of BHD.
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