Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.Q212*
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FLCN

NM_144997.7:p.Q212*

Associated Papers

FLCN-mutated eosinophilic renal tumors: clinicopathologic and molecular analysis of five cases highlighting morphologic heterogeneity.

Zhao M et al.

Virchows Archiv : an International Journal of Pathology, 2026

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

Birt-Hogg-Dubé syndrome presenting with bilateral pneumothorax, skin, kidney, liver, and brain lesions.

Bajpai J et al.

Journal of Family Medicine and Primary Care, 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

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

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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."