Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.L449_P451insFs
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FLCN

NM_144997.7:p.L449_P451insFs

Associated Papers

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

A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.

Miao H et al.

Molecular Genetics & Genomic Medicine, 2024

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

Clinical and genetic features of 334 Asian patients with Birt-Hogg-Dubé syndrome (BHDS) who presented with pulmonary cysts with or without a history of pneumothorax, with special reference to BHDS-associated pneumothorax.

Namba Y et al.

Plos One, 2023

Clinical and Genetic Comparison of Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases.

Zhou W et al.

International Journal of General Medicine, 2022

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

Guo T et al.

Annals of Translational Medicine, 2020

A familial case of Birt-Hogg-Dubé syndrome complicated with various cancers.

Goto Y et al.

Respirology Case Reports, 2020

Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation.

Zheng CM et al.

Chinese Medical Journal, 2019

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

Skin lesions of Birt-Hogg-Dubé syndrome: Clinical and histopathological findings in 31 Japanese patients who presented with pneumothorax and/or multiple lung cysts.

Iwabuchi C et al.

Journal of Dermatological Science, 2018

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.

Liu Y et al.

Orphanet Journal of Rare Diseases, 2017

Benign clear cell "sugar" tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report.

Gunji-Niitsu Y et al.

Bmc Medical Genetics, 2016

Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.

Furuya M et al.

Clinical Genetics, 2016

Haploinsufficiency of the folliculin gene leads to impaired functions of lung fibroblasts in patients with Birt-Hogg-Dubé syndrome.

Hoshika Y et al.

Physiological Reports, 2016

Genome-Wide Uniparental Disomy and Copy Number Variations in Renal Cell Carcinomas Associated with Birt-Hogg-Dubé Syndrome.

Iribe Y et al.

The American Journal of Pathology, 2016

Pulmonary Neoplasms in Patients with Birt-Hogg-Dubé Syndrome: Histopathological Features and Genetic and Somatic Events.

Furuya M et al.

Plos One, 2016

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

Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.

Kumasaka T et al.

Histopathology, 2014

Intratumoral peripheral small papillary tufts: a diagnostic clue of renal tumors associated with Birt-Hogg-Dubé syndrome.

Kuroda N et al.

Annals of Diagnostic Pathology, 2014

Birt-Hogg-Dubé syndrome with clear cell renal cell carcinoma in a Chinese family.

Lin Z et al.

Internal Medicine (tokyo, Japan), 2014

Birt-Hogg-Dube syndrome: clinicopathological features of the lung.

Furuya M et al.

Journal of Clinical Pathology, 2013

Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.

Kunogi M et al.

Journal of Medical Genetics, 2010

[Birt-Hogg-Dubé syndrome].

Koga S et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2010

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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."