Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.E510del1
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FLCN

NM_144997.7:p.E510del1

Associated Papers

Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma.

Jikuya R et al.

Ebiomedicine, 2023

37182269 (PubMed )
Supplement: mmc4.xlsx › Candidate_driver_gene_variants

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

Establishment and characterization of BHD-F59RSVT, an immortalized cell line derived from a renal cell carcinoma in a patient with Birt-Hogg-Dubé syndrome.

Furuya M et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2017

Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome.

Furuya M et al.

Cancer Science, 2015

Immunohistochemical characterization of renal tumors in patients with Birt-Hogg-Dubé syndrome.

Iribe Y et al.

Pathology International, 2015

Renal cell tumour characteristics in patients with the Birt-Hogg-Dubé cancer susceptibility syndrome: a retrospective, multicentre study.

Benusiglio PR et al.

Orphanet Journal of Rare Diseases, 2014

Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax.

Kim J et al.

Gene, 2012

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.

Nahorski MS et al.

Human Mutation, 2011

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

Lim DH et al.

Human Mutation, 2010

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Wei MH et al.

Human Mutation, 2009

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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."