Article

Frequency of <i>FLCN</i> Loss of Function Variants and Birt-Hogg-Dubé-Associated Phenotypes in a Healthcare System Population

2022-02-02

Abstract excerpt

<h4>Purpose</h4> Current penetrance estimates of Birt-Hogg-Dubé (BHD)-associated cutaneous, pulmonary, and renal manifestations are based on clinically ascertained families. In a healthcare system population, we used a genetics-first approach to estimate the prevalence of pathogenic/likely pathogenic (P/LP) variants in the FLCN gene, which cause BHD, and the penetrance of BHD-related phenotypes. <h4>Methods</h4> E...

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Literature Corpus work: 936cb2dd-cc54-563b-a901-5d07de8a0275
DOI: 10.1101/2022.01.31.22269926

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