Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.R527fs
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FLCN

NM_144997.7:p.R527fs

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

Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases.

Tu L et al.

The American Journal of Case Reports, 2025

Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dubé syndrome.

Pan HH et al.

Journal of Medical Genetics, 2023

Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report.

Tang S et al.

Frontiers in Medicine, 2023

FLCN-regulated miRNAs suppressed reparative response in cells and pulmonary lesions of Birt-Hogg-Dubé syndrome.

Min H et al.

Thorax, 2020

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.

Liu K et al.

Orphanet Journal of Rare Diseases, 2019

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

Hou X et al.

Bmc Medical Genetics, 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."