Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.P140delFs
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FLCN

NM_144997.7:p.P140delFs

Associated Papers

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

Hou X et al.

Bmc Medical Genetics, 2018

Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.

Houweling AC et al.

British Journal of Cancer, 2011

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

Wei MH et al.

Human Mutation, 2009

Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.

Leter EM et al.

The Journal of Investigative Dermatology, 2008

Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.

van Steensel MA et al.

The Journal of Investigative Dermatology, 2007

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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."