Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
FLCN-Driven Functional Adrenal Cortical Carcinoma with High Mitotic Tumor Grade: Extending the Endocrine Manifestations of Birt-Hogg-Dubé Syndrome.
Hofstedter R et al.
Endocrine Pathology, 2023
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
Liu K et al.
Orphanet Journal of Rare Diseases, 2019
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.
Liu Y et al.
Orphanet Journal of Rare Diseases, 2017
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
Schmidt LS et al.
Nature Reviews. Urology, 2015
Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.
Kunogi M et al.
Journal of Medical Genetics, 2010
The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
Wei MH et al.
Human Mutation, 2009
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