Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.E434Splc
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FLCN

NM_144997.7:p.E434Splc

Associated Papers

Renal Neoplasia in Birt-Hogg-Dubé Syndrome: Integrated Histopathologic, Bulk, and Single-cell Transcriptomic Analysis.

Gupta S et al.

European Urology, 2025

Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.

Ray A et al.

Orphanet Journal of Rare Diseases, 2022

Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts.

Iwabuchi C et al.

Journal of Dermatological Science, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."