Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.G470_V473delFs
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FLCN

NM_144997.7:p.G470_V473delFs

Associated Papers

Topical rapamycin as a treatment for fibrofolliculomas in Birt-Hogg-Dubé syndrome: a double-blind placebo-controlled randomized split-face trial.

Gijezen LM et al.

Plos One, 2014

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

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."