Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.D476insFs
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FLCN

NM_144997.7:p.D476insFs

Associated Papers

Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dubé syndrome from genomics and population cohorts.

Yngvadottir B et al.

Thorax, 2025

40210444 (PubMed )
Supplement: thorax-80-8-s001.pdf

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

Hou X et al.

Bmc Medical Genetics, 2018

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."