Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.L460fs
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FLCN

NM_144997.7:p.L460fs

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

Birt-Hogg-Dubé syndrome, from non-invasive dermatologic assessment to gene testing, molecular and ultrastructural histologic analysis.

Diluvio L et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.

Hou X et al.

Bmc Medical Genetics, 2018

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

Maffé A et al.

Clinical Genetics, 2011

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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."