Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.N494S
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FLCN

NM_144997.7:p.N494S

Associated Papers

The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome.

Guo T et al.

Annals of Translational Medicine, 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

Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.

Dong L et al.

Medicine, 2016

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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."