Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.S461insFs
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FLCN

NM_144997.7:p.S461insFs

Associated Papers

GPNMB Expression Identifies FLCN -Associated Eosinophilic Renal Tumors With Heterogeneous Clinicopathologic Spectrum and Gene Expression Profiles.

Xia QY et al.

The American Journal of Surgical Pathology, 2025

Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.

Hu D et al.

Orphanet Journal of Rare Diseases, 2024

Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.

Wang Y et al.

Orphanet Journal of Rare Diseases, 2023

Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China.

Zhang G et al.

Orphanet Journal of Rare Diseases, 2022

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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."