Associated Papers
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
33137092 (PubMed )
Supplement: pgen.1009187.s014.xlsx › Fig2F_S10AB
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
Liu K et al.
Orphanet Journal of Rare Diseases, 2019
31615547 (PubMed )
Supplement: 13023_2019_1198_MOESM1_ESM.xlsx › Mutagenesis_primer_pairs
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
Hou X et al.
Bmc Medical Genetics, 2018
Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax.
Kim J et al.
Gene, 2012
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