Varaico: Literature-Extracted Genetic Variants

Gene:FLCN
Variant:p.V441Fs
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FLCN

NM_144997.7:p.V441Fs

Associated Papers

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

Hou X et al.

Bmc Medical Genetics, 2018

Kidney cancer characteristics and genotype-phenotype-correlations in Birt-Hogg-Dubé syndrome.

Sattler EC et al.

Plos One, 2018

Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients.

Johannesma PC et al.

Bmc Pediatrics, 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

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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."